Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Aashim Bhatia; Bret C Mobley; Joy Cogan; Mary E Koziura; Elly Brokamp; John Phillips; John Newman; Steven A Moore; Rizwan Hamid; Undiagnosed Diseases Network (UDN)

doi:10.1016/j.clinimag.2019.06.010

Back

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Journal article

Open access

Peer reviewed

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Aashim Bhatia, Bret C Mobley, Joy Cogan, Mary E Koziura, Elly Brokamp, John Phillips, John Newman, Steven A Moore, Rizwan Hamid and Undiagnosed Diseases Network (UDN)

Clinical imaging, Vol.58, pp.108-113

11/2019

DOI: 10.1016/j.clinimag.2019.06.010

PMCID: PMC6893088

PMID: 31299614

Files and links (1)

url

https://doi.org/10.1016/j.clinimag.2019.06.010View

Published (Version of record) Open Access

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.

Adolescent

Female

Humans

Lower Extremity - pathology

Magnetic Resonance Imaging - methods

Molecular Chaperones - genetics

Muscle Weakness - pathology

Muscle, Skeletal - pathology

Muscular Atrophy - pathology

Muscular Dystrophies, Limb-Girdle - genetics

Muscular Dystrophies, Limb-Girdle - pathology

Details

Title: Subtitle: Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
Creators: Aashim Bhatia - Vanderbilt University
Bret C Mobley - Vanderbilt University
Joy Cogan - Vanderbilt University
Mary E Koziura - Vanderbilt University
Elly Brokamp - Vanderbilt University
John Phillips - Vanderbilt University
John Newman - Vanderbilt University
Steven A Moore - University of Iowa
Rizwan Hamid - Vanderbilt University
Undiagnosed Diseases Network (UDN)
Resource Type: Journal article
Publication Details: Clinical imaging, Vol.58, pp.108-113
DOI: 10.1016/j.clinimag.2019.06.010
PMID: 31299614
PMCID: PMC6893088
NLM abbreviation: Clin Imaging
ISSN: 0899-7071
eISSN: 1873-4499
Grant note: U54 NS053672 / NINDS NIH HHS
Language: English
Date published: 11/2019
Academic Unit: Pathology
Record Identifier: 9984186506102771

Metrics

12 Record Views

7 Times Cited - Web of Science