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

## TL;DR

This paper describes six new cases of a rare muscle disease linked to the MATR3 gene, highlighting unusual symptoms and a misdiagnosis in one patient.

## Contribution

The study expands the clinical understanding of MATR3-related distal myopathy by identifying rare and asymmetric symptom patterns.

## Key findings

- Six patients from four unrelated families with MATR3-related distal myopathy were identified.
- Two cases exhibited an asymmetric scapuloperoneal phenotype, leading to misdiagnosis in one patient.
- The study highlights the variability in clinical presentation of MATR3-related myopathy.

## 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.