Matrin-3 deficiency can give rise to a form of amyotrophic lateral sclerosis (ALS) or distal myopathy with vocal cord paralysis (VCPDM). Russian clinicians report the clinical and biological data of six new patients from four unrelated families, even though these conditions remain exceedingly rare:
- two of these patients showed signs that initially led to the diagnosis of facioscapulohumeral muscular dystrophy (FSHD),
- In both cases, the muscle deficit was clearly asymmetrical,
- all six patients, half of whom were Tatar, carried the MATR3 gene mutation associated with the VCPDM phenotype (autosomal dominant variant p.S85C).
- onset of symptoms was between 30 and 40 years of age.
This FSHD-like presentation adds to the clinical description of the disease, and is reminiscent of what has already been observed in VCP-related myopathy.
