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Case Reports
. 2024 Aug 13:15:1414928.
doi: 10.3389/fgene.2024.1414928. eCollection 2024.

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

Aysylu Murtazina  1 , Dmitrii Subbotin  1 , Anna Kuchina  1 , Olga Gilvanova  2 , Daniil Degterev  2 , Olga Shchagina  1 , Tatiana Cherevatova  1 , Maria Bulakh  1 , Darya Sherstyukova  1 , Oksana Ryzhkova  1 , Olga Kurushina  3 , Mikhail Skoblov  1 , Artem Borovikov  1 , Sergey Kutsev  1
Affiliations
Case Reports

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

Aysylu Murtazina et al. Front Genet. .

Abstract

Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM. In this study, we present six patients from four unrelated families affected by VCPDM. Our observations include patients exhibiting both the typical phenotype associated with MATR3-related distal myopathy and rare symptomatic manifestations of the disease. Notably, two cases presented with an asymmetric scapuloperoneal phenotype, leading in one case to an initial misdiagnosis of facioscapulohumeral muscular dystrophy.

Keywords: ALS; FSHD; MATR3; distal myopathy; phenotypic variability; scapuloperoneal phenotype.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
The pedigrees of all patients correspond to the autosomal dominant type of inheritance. Diamond symbols indicate offspring, whose gender is unknown (A) Clinical presentations of five patients with VCPDM (B) The illustrations represent typical distal muscle atrophy observed in all patients. Note scapular winging and a clear asymmetric pattern of muscle involvement in two patients 3.1 and 4.1. M, male; F, female; y, years.
FIGURE 2
FIGURE 2
Lower limb muscle MRI in patients with different stages of VCPDM. The characteristic pattern of muscle involvement was observed in patients with the mid-stage of the disease. T1-weighted MRI revealed the typical involvement of lower leg muscles, with relatively spared tibialis posterior and lateral gastrocnemius. The patient with disease onset demonstrated mild diffusely affected posterior compartment of lower leg muscles. In the patient with end-stage disease, complete fatty replacement of lower leg muscles was noted. The most pronounced affected thigh muscles were the long head of the biceps femoris and the semimembranosus with spared gracilis in all patients. M, male; F, female; y, years; p, patient; DD, disease duration.
See this image and copyright information in PMC

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