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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Publication ,  Journal Article
Bhatia, A; Mobley, BC; Cogan, J; Koziura, ME; Brokamp, E; Phillips, J; Newman, J; Undiagnosed Diseases Network (UDN), ; Moore, SA; Hamid, R ...
Published in: Clinical imaging
November 2019

Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.

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Published In

Clinical imaging

DOI

EISSN

1873-4499

ISSN

0899-7071

Publication Date

November 2019

Volume

58

Start / End Page

108 / 113

Related Subject Headings

  • Nuclear Medicine & Medical Imaging
  • Muscular Dystrophies, Limb-Girdle
  • Muscular Atrophy
  • Muscle, Skeletal
  • Muscle Weakness
  • Molecular Chaperones
  • Magnetic Resonance Imaging
  • Lower Extremity
  • Humans
  • Female
 

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Bhatia, A., Mobley, B. C., Cogan, J., Koziura, M. E., Brokamp, E., Phillips, J., … Members of the Undiagnosed Diseases Network, . (2019). Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clinical Imaging, 58, 108–113. https://doi.org/10.1016/j.clinimag.2019.06.010
Bhatia, Aashim, Bret C. Mobley, Joy Cogan, Mary E. Koziura, Elly Brokamp, John Phillips, John Newman, et al. “Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.Clinical Imaging 58 (November 2019): 108–13. https://doi.org/10.1016/j.clinimag.2019.06.010.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, et al. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clinical imaging. 2019 Nov;58:108–13.
Bhatia, Aashim, et al. “Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.Clinical Imaging, vol. 58, Nov. 2019, pp. 108–13. Epmc, doi:10.1016/j.clinimag.2019.06.010.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J, Undiagnosed Diseases Network (UDN), Moore SA, Hamid R, Members of the Undiagnosed Diseases Network. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clinical imaging. 2019 Nov;58:108–113.
Journal cover image

Published In

Clinical imaging

DOI

EISSN

1873-4499

ISSN

0899-7071

Publication Date

November 2019

Volume

58

Start / End Page

108 / 113

Related Subject Headings

  • Nuclear Medicine & Medical Imaging
  • Muscular Dystrophies, Limb-Girdle
  • Muscular Atrophy
  • Muscle, Skeletal
  • Muscle Weakness
  • Molecular Chaperones
  • Magnetic Resonance Imaging
  • Lower Extremity
  • Humans
  • Female