Scholars@Duke
Laura Elizabeth Case

Laura Elizabeth Case

Associate Professor in Orthopaedic Surgery
Orthopaedic Surgery, Physical Therapy
case0001@mc.duke.edu
DUMC 104002, 2200 West Main Street, Suite A210, Erwin, Durham, NC 27708
Doctor of Physical Therapy Division, DUMC Box 104002, Durham, NC 27710
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Selected Publications

IOPD entering adulthood: Lessons from two decades of ERT experience

Conference Molecular Genetics and Metabolism · February 2024 Full text Cite

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.

Journal Article Front Genet · 2024 Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enz ... Full text Link to item Cite

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Journal Article Mol Genet Metab Rep · September 2023 IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has ident ... Full text Link to item Cite

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Journal Article JIMD Rep · September 2023 Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential treatment ... Full text Link to item Cite

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Journal Article Mol Ther · July 5, 2023 Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA) could eliminate the need for enzyme replacement therapy (ERT) by creating a liver depot for acid α-glucosidase (GAA) production. We report initial safety and bioactivity of ... Full text Link to item Cite

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Journal Article Mol Genet Metab · March 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads t ... Full text Link to item Cite

Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.

Journal Article Dev Med Child Neurol · December 2022 AIM: To evaluate safety and motor function after treatment with allogeneic umbilical cord blood (AlloCB) or umbilical cord tissue-derived mesenchymal stromal cells (hCT-MSC) in children with cerebral palsy (CP). METHOD: Ninety-one children (52 males, 39 fe ... Full text Open Access Link to item Cite

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Journal Article Mol Genet Metab · March 2022 PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical ... Full text Open Access Link to item Cite

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item Cite

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Journal Article Mol Genet Metab · November 2021 INTRODUCTION: Early recognized manifestations of GSD III include hypoglycemia, hepatomegaly, and elevated liver enzymes. Motor symptoms such as fatigue, muscle weakness, functional impairments, and muscle wasting are typically reported in the 3rd to 4th de ... Full text Link to item Cite

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Journal Article Stem Cells Transl Med · September 2021 Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have their own ... Full text Open Access Link to item Cite

Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.

Journal Article JIMD Rep · January 2021 OBJECTIVE: Since the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we ... Full text Link to item Cite

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.

Journal Article Neuromuscul Disord · November 2020 To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT ... Full text Open Access Link to item Cite

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.

Journal Article J Inherit Metab Dis · May 2020 Whole-body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late-onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy seen in t ... Full text Link to item Cite

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Journal Article Genet Med · May 2020 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease. METHODS: We conducted a retrospective ... Full text Open Access Link to item Cite

IOPD entering adulthood: Lessons from two decades of ERT experience

Conference Molecular Genetics and Metabolism · February 2024 Full text Cite

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.

Journal Article Front Genet · 2024 Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enz ... Full text Link to item Cite

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Journal Article Mol Genet Metab Rep · September 2023 IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has ident ... Full text Link to item Cite

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Journal Article JIMD Rep · September 2023 Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential treatment ... Full text Link to item Cite

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Journal Article Mol Ther · July 5, 2023 Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA) could eliminate the need for enzyme replacement therapy (ERT) by creating a liver depot for acid α-glucosidase (GAA) production. We report initial safety and bioactivity of ... Full text Link to item Cite

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Journal Article Mol Genet Metab · March 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads t ... Full text Link to item Cite

Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.

Journal Article Dev Med Child Neurol · December 2022 AIM: To evaluate safety and motor function after treatment with allogeneic umbilical cord blood (AlloCB) or umbilical cord tissue-derived mesenchymal stromal cells (hCT-MSC) in children with cerebral palsy (CP). METHOD: Ninety-one children (52 males, 39 fe ... Full text Open Access Link to item Cite

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Journal Article Mol Genet Metab · March 2022 PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical ... Full text Open Access Link to item Cite

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item Cite

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Journal Article Mol Genet Metab · November 2021 INTRODUCTION: Early recognized manifestations of GSD III include hypoglycemia, hepatomegaly, and elevated liver enzymes. Motor symptoms such as fatigue, muscle weakness, functional impairments, and muscle wasting are typically reported in the 3rd to 4th de ... Full text Link to item Cite

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Journal Article Stem Cells Transl Med · September 2021 Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have their own ... Full text Open Access Link to item Cite

Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.

Journal Article JIMD Rep · January 2021 OBJECTIVE: Since the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we ... Full text Link to item Cite

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.

Journal Article Neuromuscul Disord · November 2020 To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT ... Full text Open Access Link to item Cite

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.

Journal Article J Inherit Metab Dis · May 2020 Whole-body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late-onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy seen in t ... Full text Link to item Cite

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Journal Article Genet Med · May 2020 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease. METHODS: We conducted a retrospective ... Full text Open Access Link to item Cite

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

Journal Article Mol Genet Metab · February 2020 This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4 ... Full text Open Access Link to item Cite

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2020 Full text Cite

Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.

Journal Article J Pediatr Rehabil Med · 2020 BACKGROUND: Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects of our 12-week respiratory muscle training (RMT) regimen in 8 adults with late-onset Pompe disease [1] ... Full text Open Access Link to item Cite

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network.

Journal Article Biol Blood Marrow Transplant · December 2019 The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic stem cell transplantation (HSCT) has ... Full text Open Access Link to item Cite

[Not Available].

Journal Article Mol Genet Metab · August 2019 INTRODUCTION:: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To address this need, we have developed ... Full text Open Access Link to item Cite

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Journal Article Mol Genet Metab · February 2019 BACKGROUND: Individuals with late-onset Pompe disease (LOPD) and the common c.-32-13 T > G variant are widely thought to have milder, adult-onset disease. This belief, and the consequent low suspicion of clinical involvement in children, has led to delays ... Full text Link to item Cite

Physical Activity Levels of Children With Down Syndrome.

Journal Article Pediatr Phys Ther · January 2019 PURPOSE: This systematic review of literature analyzed accelerometer use to measure physical activity (PA) in individuals 21 years and younger with Down syndrome (DS). SUMMARY OF KEY POINTS: Comprehensive search strategy conducted in accordance with Prefer ... Full text Link to item Cite

A Transition Toolkit for Duchenne Muscular Dystrophy.

Journal Article Pediatrics · October 2018 The care of individuals with Duchenne muscular dystrophy (DMD) now extends into adulthood. Childhood to adulthood transition planning is an important aspect of care, affecting health outcomes as well as other important aspects of adult life. In this articl ... Full text Link to item Cite

Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy.

Journal Article Pediatrics · October 2018 Steadily improving management of Duchenne muscular dystrophy (DMD) continues to lead to improved physical and functional status, allowing increasingly successful transitions to independence and self-actualization in adulthood. Rehabilitation principles rem ... Full text Link to item Cite

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Journal Article Mol Ther · September 5, 2018 This 52-week, phase I/II double-blind, randomized, placebo-controlled study investigated the novel use of clenbuterol in late-onset Pompe disease (LOPD) stably treated with ERT. Eleven of thirteen participants completed the study. No serious adverse events ... Full text Link to item Cite

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.

Journal Article Lancet Neurol · April 2018 A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive di ... Full text Link to item Cite

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Journal Article Lancet Neurol · March 2018 Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory di ... Full text Link to item Cite

Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Journal Article Stem Cells Transl Med · December 2017 Cerebral palsy (CP) is a condition affecting young children that causes lifelong disabilities. Umbilical cord blood cells improve motor function in experimental systems via paracrine signaling. After demonstrating safety, we conducted a phase II trial of a ... Full text Open Access Link to item Cite

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Journal Article N Engl J Med · November 2, 2017 BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of ... Full text Link to item Cite

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Journal Article Mol Genet Metab · November 2017 OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are ... Full text Link to item Cite

Interventions for Gait Training in Children With Spinal Cord Impairments: A Scoping Review.

Journal Article Pediatr Phys Ther · October 2017 PURPOSE: This is a scoping review of the literature on interventions for gait in individuals with pediatric spinal cord impairments. SUMMARY OF KEY POINTS: Four categories of interventions were identified: orthoses/assistive devices, electrical stimulation ... Full text Link to item Cite

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Journal Article Mol Genet Metab · March 2017 BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation ... Full text Open Access Link to item Cite

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Journal Article Mol Genet Metab · 2017 OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, ... Full text Open Access Link to item Cite

Physical therapy management of infants and children with hypophosphatasia.

Journal Article Mol Genet Metab · September 2016 Hypophosphatasia (HPP) is a rare inborn error of metabolism resulting in undermineralization of bone and subsequent skeletal abnormalities. The natural history of HPP is characterized by rickets and osteomalacia, increased propensity for bone fracture, ear ... Full text Link to item Cite

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

Journal Article Mol Genet Metab · February 2016 BACKGROUND: Determine the effects of a 12-week respiratory muscle training (RMT) program in late-onset Pompe disease (LOPD). METHODS: We investigated the effects of 12-weeks of RMT followed by 3-months detraining using a single-subject A-B-A experimental d ... Full text Open Access Link to item Cite

Characterization of gait in late onset Pompe disease.

Journal Article Mol Genet Metab · November 2015 The skeletal muscle manifestations of late-onset Pompe disease (LOPD) cause significant gait impairment. However, the specific temporal and spatial characteristics of abnormal gait in LOPD have not been objectively analyzed or described in the literature. ... Full text Link to item Cite

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune ... Full text Link to item Cite

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have ... Full text Link to item Cite

Physical Therapy and Orthotic Devices

Chapter · July 16, 2015 Muscular Dystrophy: A Concise Guide offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient. ... Cite

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Journal Article Muscle Nerve · May 2015 INTRODUCTION: Previous examination of whole-body muscle involvement in Pompe disease has been limited to physical examination and/or qualitative magnetic resonance imaging (MRI). In this study we assess the feasibility of quantitative proton-density fat-fr ... Full text Open Access Link to item Cite

Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Journal Article Am J Case Rep · April 3, 2015 BACKGROUND: Prior autopsy reports demonstrate glycogen deposition in Schwann cells of the peripheral nerves in patients with infantile and late-onset Pompe disease (LOPD), but little is known about associated clinical features. CASE REPORT: Here, we report ... Full text Open Access Link to item Cite

Characterization of gait in late onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2015 Full text Cite

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.

Journal Article JIMD Rep · 2015 OBJECTIVE: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in late-onset Pompe disease (LOPD) Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionna ... Full text Link to item Cite

Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy.

Journal Article Neuroimage Clin · 2015 Cerebral Palsy (CP) refers to a heterogeneous group of permanent but non-progressive movement disorders caused by injury to the developing fetal or infant brain (Bax et al., 2005). Because of its serious long-term consequences, effective interventions that ... Full text Open Access Link to item Cite

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Journal Article Muscle Nerve · October 2014 INTRODUCTION: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. METHODS: Random ... Full text Link to item Cite

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Journal Article FASEB J · May 2014 Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previo ... Full text Open Access Link to item Cite

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

Journal Article J Pediatr Rehabil Med · 2014 PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe diseas ... Full text Open Access Link to item Cite

Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.

Journal Article Pediatr Phys Ther · 2013 PURPOSE: This study examined the reliability and validity of the Test of Infant Motor Performance Screening Items (TIMPSI) in infants with type I spinal muscular atrophy (SMA). METHODS: After training, 12 evaluators scored 4 videos of infants with type I S ... Full text Link to item Cite

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Journal Article Mol Genet Metab · November 2012 Featured Publication Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liv ... Full text Open Access Link to item Cite

The emerging phenotype of long-term survivors with infantile Pompe disease.

Journal Article Genet Med · September 2012 Featured Publication PURPOSE: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. METHODS: Inclusion criteri ... Full text Open Access Link to item Cite

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Journal Article Mol Genet Metab · July 2012 Featured Publication Pompe disease (glycogen storage disease type II, GSD II) is an autosomal recessive disease caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal and smooth muscle. ... Full text Link to item Cite

Early cognitive development in children with infantile Pompe disease.

Journal Article Mol Genet Metab · March 2012 Featured Publication This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of ... Full text Open Access Link to item Cite

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Featured Publication Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disea ... Full text Link to item Cite

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Journal Article Genet Med · January 2012 Featured Publication PURPOSE: Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Cross-reactive immunologic material negative (CRIM-negative) Pompe patients dev ... Full text Link to item Cite

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Journal Article Mol Genet Metab · December 2011 Featured Publication Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To ... Full text Link to item Cite

The Pompe Registry: Baseline Data From the First Five Years

Conference Clinical Therapeutics · June 1, 2011 Full text Cite

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Journal Article Mol Genet Metab · May 2011 Featured Publication Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progre ... Full text Link to item Cite

The heterogeneity of pompe disease: Early data on genotype from the Pompe registry

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

The clinical phenotype of Long-term infantile Pompe disease survivors

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

Journal Article Dysphagia · December 2010 Featured Publication Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) ... Full text Open Access Link to item Cite

Glycogen storage disease type III diagnosis and management guidelines.

Journal Article Genet Med · July 2010 Featured Publication PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra ... Full text Link to item Cite

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.

Journal Article Lancet Neurol · February 2010 Featured Publication Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder. Implementing co ... Full text Link to item Cite

Lifeline. An interview of Kate Bushby.

Journal Article Lancet Neurol · January 2010 Featured Publication Full text Link to item Cite

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Journal Article Mol Genet Metab · December 2008 Featured Publication Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those wi ... Full text Link to item Cite

Fractures in children with Pompe disease: a potential long-term complication.

Journal Article Pediatr Radiol · May 2007 Featured Publication BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ... Full text Link to item Cite

Physical therapy management of Pompe disease.

Journal Article Genet Med · May 2006 Featured Publication Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive mu ... Full text Link to item Cite

Pompe disease diagnosis and management guideline.

Journal Article Genet Med · May 2006 Featured Publication Full text Link to item Cite

The effects of aerobic exercise on endurance, strength, function and self-perception in adolescents with spastic cerebral palsy: a report of three case studies.

Journal Article Pediatr Phys Ther · 2005 Featured Publication PURPOSE: The purpose of this study was to investigate changes in endurance, strength, function, and self-perception before, during, and after aerobic exercise intervention in three ambulatory adolescents with spastic cerebral palsy. METHODS: Three individu ... Full text Link to item Cite

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Journal Article Genet Med · 2001 Featured Publication PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzy ... Link to item Cite

Panel

Conference Cite

School Based Therapy for Children with Progressive Disorders

Conference Emphasis on motor unit diseases such as muscular dystrophies and spinal muscular atrophies ... Cite

Physical Therapy Management of Pompe Disease

Conference Developing management guidelines for the treatment of Pompe disease ... Cite

Physical Therapy Management of Muscular Dystrophy

Conference Lecture, workshop, panel discussion ... Cite

Pediatric Casting and Orthotics

Conference Taught and consulted at children’s hospitals and schools ... Cite

Physical Therapy Management of Spinal Muscular Atrophy

Conference Presentation to families and health care professionals ... Cite

Physical Therapy Management of Duchenne Muscular Dystrophy – Workshops

Conference Co-presentor of clinical workshops ... Cite

Normal and Abnormal Motor Development and Early Intervention

Conference Taught and consulted at children’s hospitals and schools; Coordinated by Friendship Bridge, Evergreen, Colorado ... Cite

Physical Therapy in the Trisomies

Conference Panel presentations regarding physical therapy intervention for children with diagnoses including trisomy18, 13, and related disorders, and workshop clinics for participating families ... Cite

Anatomy Review – The Shoulder

Conference Sponsored by Charlotte Area Health Education Center; One day workshop for health professionals – in-depth review of the shoulder. Format included lecture and lab sessions with skeletons and prosected cadavers ... Cite

Postural Support Mechanisms in Pediatrics

Conference Guest lecture in entry level physical therapy program ... Cite

Pediatric Assessment in Neurological Dysfunction

Conference Guest lecture and 2 clinical sessions with pediatric patients presented to entry level physical therapy students at University of North Carolina at Chapel Hill ... Cite

Human Anatomy Review for Pediatric Physical Therapists

Conference Course provided in-depth review of human gross anatomy with emphasis on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with skeletons and prosected cadavers. ... Cite

Anatomy Review for Physical Therapists and Related Medical Health Professionals

Conference Course provided indepth review of human gross anatomy with emphasis on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with skeletons and prosected cadavers. ... Cite

Physical Therapy Management of Ataxia Telangiectasia

Conference Panel discussion/presentation ... Cite

Gross Anatomy Review Series for Physical Therapists

Conference Course provided in-depth review of human gross anatomy with emphasis on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with skeletons and prosected cadavers. Sponsored by Wake AHEC ... Cite

Anatomy for Physical Therapists and Related Health Professionals

Conference Courses Presented at physical therapy schools; augmented by clinical consultation at Pediatric Hospital #1 in Ho Chi Minh City. Coordinated through Friendship Bridge, Evergreen Colorado ... Cite

Issues in Motor Development

Conference Guest lecture given to entry level physical therapy students ... Cite

Anatomy Review Series for Physical Therapists and Related Medical Allied Health Professionals

Conference Course provided in-depth review of human gross anatomy with emphasis on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with skeletons and prosected cadavers. ... Cite

Anatomy for Physical Therapists and Related Medical Allied Health Professionals

Conference One day workshop covering the shoulder, the hip, and the knee and related aspects of musculoskeletal and nervous systems. Format includes lecture and lab sessions with skeletons and prosected cadavers. ... Cite

Anatomy for Physical Therapists and Related Medical Allied Health Professionals

Conference Session I: The Shoulder and The Hand Session II: The Hip, The Knee, and The Foot Two day workshop covering specific aspects of the musculoskeletal system and related aspects of the nervous and vascular systems. Format included lectures and lab sessions wit ... Cite

Pediatric Physical Therapy Lecture Series

Conference I. Developmental Biomechanics and Malformation/Deformation II. Anatomy, Pathology, and Physical Therapy in the Pediatric Hip III. Anatomy, Pathology, and Physical Therapy in the Pediatric Foot. ... Cite

Anatomy for Physical Therapists and Related Medical Allied Health Professionals

Conference Session I: Upper Extremity Session II: Lower Extremity Two day workshop covering upper and lower extremities in terms of musculoskeletal system and related aspects of nervous and vascular systems. Format included lectures and lab sessions with study of ske ... Cite

Anatomy for Physical Therapists & Related Medical Allied Health Professionals

Conference Instructor in 7 week courses for CEU credit that provided indepth review of human gross anatomy. Primary focus of course on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with study of s ... Cite

Anatomy for Physical Therapists & Related Medical Allied Health Professionals

Conference Instructor in 7 week courses for CEU credit that provided indepth review of human gross anatomy. Primary focus of course on musculoskeletal system and related aspects of nervous and vascular systems. Format included lecture and lab sessions with study of s ... Cite

Anatomy for Physical Therapists and Related Medical Allied Health Professionals

Conference One day workshop covering the anterior thoracic wall, anterior abdominal wall, and the vertebral column with lectures and lab sessions including study of skeletons and prosected cadavers. ... Cite

The Pediatric Foot

Conference Covered normal and abnormal developmental biomechanics of the foot; and physical therapy intervention including therapy programs and use of casting and orthotics. ... Cite