Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN), Members of the Undiagnosed Diseases Network

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)108-113
Number of pages6
JournalClinical Imaging
Volume58
DOIs
StatePublished - Nov 1 2019

Fingerprint

Muscular Dystrophies
Magnetic Resonance Imaging
Atrophy
Lower Extremity
Muscles
Mutation
Limb-Girdle Muscular Dystrophies
Pediatrics
Genes
Rectus Abdominis
Muscular Atrophy
Muscle Weakness
Quadriceps Muscle
Pathology
Biopsy
Population
Proteins
Abdominal Oblique Muscles
Therapeutics

Keywords

  • MRI
  • Muscular dystrophy
  • TorsinA-interacting protein 1 (TOR1AIP1)

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Undiagnosed Diseases Network (UDN), & 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

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. / Undiagnosed Diseases Network (UDN); Members of the Undiagnosed Diseases Network.

In: Clinical Imaging, Vol. 58, 01.11.2019, p. 108-113.

Research output: Contribution to journalArticle

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network 2019, 'Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy', Clinical Imaging, vol. 58, pp. 108-113. https://doi.org/10.1016/j.clinimag.2019.06.010
Undiagnosed Diseases Network (UDN), Members of the Undiagnosed Diseases Network. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clinical Imaging. 2019 Nov 1;58:108-113. https://doi.org/10.1016/j.clinimag.2019.06.010
Undiagnosed Diseases Network (UDN) ; Members of the Undiagnosed Diseases Network. / Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. In: Clinical Imaging. 2019 ; Vol. 58. pp. 108-113.
@article{9902d5e4bbf44078a87ba0d3229f025a,
title = "Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy",
abstract = "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.",
keywords = "MRI, Muscular dystrophy, TorsinA-interacting protein 1 (TOR1AIP1)",
author = "{Undiagnosed Diseases Network (UDN)} and {Members of the Undiagnosed Diseases Network} and Aashim Bhatia and Mobley, {Bret C.} and Joy Cogan and Koziura, {Mary E.} and Elly Brokamp and John Phillips and John Newman and Moore, {Steven A.} and Rizwan Hamid and Acosta, {Maria T.} and Adams, {David R.} and Pankaj Agrawal and Alejandro, {Mercedes E.} and Patrick Allard and Justin Alvey and Ashley Andrews and Ashley, {Euan A.} and Azamian, {Mahshid S.} and Bacino, {Carlos A.} and Guney Bademci and Eva Baker and Ashok Balasubramanyam and Dustin Baldridge and Jim Bale and Deborah Barbouth and Batzli, {Gabriel F.} and Pinar Bayrak-Toydemir and Beggs, {Alan H.} and Gill Bejerano and Bellen, {Hugo J.} and Bernstein, {Jonathan A.} and Berry, {Gerard T.} and Anna Bican and Bick, {David P.} and Birch, {Camille L.} and Stephanie Bivona and John Bohnsack and Carsten Bonnenmann and Devon Bonner and Boone, {Braden E.} and Bostwick, {Bret L.} and Lorenzo Botto and Briere, {Lauren C.} and Brown, {Donna M.} and Matthew Brush and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and John Carey and Brendan Lanpher",
year = "2019",
month = "11",
day = "1",
doi = "10.1016/j.clinimag.2019.06.010",
language = "English (US)",
volume = "58",
pages = "108--113",
journal = "Clinical Imaging",
issn = "0899-7071",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

AU - Undiagnosed Diseases Network (UDN)

AU - Members of the Undiagnosed Diseases Network

AU - Bhatia, Aashim

AU - Mobley, Bret C.

AU - Cogan, Joy

AU - Koziura, Mary E.

AU - Brokamp, Elly

AU - Phillips, John

AU - Newman, John

AU - Moore, Steven A.

AU - Hamid, Rizwan

AU - Acosta, Maria T.

AU - Adams, David R.

AU - Agrawal, Pankaj

AU - Alejandro, Mercedes E.

AU - Allard, Patrick

AU - Alvey, Justin

AU - Andrews, Ashley

AU - Ashley, Euan A.

AU - Azamian, Mahshid S.

AU - Bacino, Carlos A.

AU - Bademci, Guney

AU - Baker, Eva

AU - Balasubramanyam, Ashok

AU - Baldridge, Dustin

AU - Bale, Jim

AU - Barbouth, Deborah

AU - Batzli, Gabriel F.

AU - Bayrak-Toydemir, Pinar

AU - Beggs, Alan H.

AU - Bejerano, Gill

AU - Bellen, Hugo J.

AU - Bernstein, Jonathan A.

AU - Berry, Gerard T.

AU - Bican, Anna

AU - Bick, David P.

AU - Birch, Camille L.

AU - Bivona, Stephanie

AU - Bohnsack, John

AU - Bonnenmann, Carsten

AU - Bonner, Devon

AU - Boone, Braden E.

AU - Bostwick, Bret L.

AU - Botto, Lorenzo

AU - Briere, Lauren C.

AU - Brown, Donna M.

AU - Brush, Matthew

AU - Burke, Elizabeth A.

AU - Burrage, Lindsay C.

AU - Butte, Manish J.

AU - Carey, John

AU - Lanpher, Brendan

PY - 2019/11/1

Y1 - 2019/11/1

N2 - 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.

AB - 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.

KW - MRI

KW - Muscular dystrophy

KW - TorsinA-interacting protein 1 (TOR1AIP1)

UR - http://www.scopus.com/inward/record.url?scp=85068510188&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85068510188&partnerID=8YFLogxK

U2 - 10.1016/j.clinimag.2019.06.010

DO - 10.1016/j.clinimag.2019.06.010

M3 - Article

AN - SCOPUS:85068510188

VL - 58

SP - 108

EP - 113

JO - Clinical Imaging

JF - Clinical Imaging

SN - 0899-7071

ER -