Inherited myopathy plus: Double-trouble from rare neuromuscular disorders

A rare disorder in the USA is one that affects < 20 0,0 0 0 people, making inherited myopathies rare diseases. Increasing access to genetic testing has been instrumental for the diagnosis of inherited myopathies. Genetic findings, however, require clinical correlation due to variable phenotype, polygenic etiology of certain inherited disorders, and possible co-existing independent neuromuscular disorders. We searched the Mayo Clinic Rochester medical record (2004-2020) to identify adult patients carrying pathogenic variants or likely pathogenic variants in genes causative of myopathies and having a coexisting independent neuromuscular disorder classified as rare at https://rarediseases.info.nih.gov/. One additional patient was identified at Nationwide Children's hospital. Clinical and laboratory findings were reviewed. We identified 14 patients from 13 families fulfilling search criteria. Seven patients had a double-trouble inherited myopathy; two had an inherited myopathy with coexistent idiopathic myositis; three had an inherited myopathy with coexisting rare neuromuscular disorder of neurogenic type; a female DMD carrier had co-existing distal spinal muscular atrophy, which was featuring the clinical phenotype; and a patient with a MYH7 pathogenic variant had Sandhoff disease causing motor neuron disease. These cases highlight the relevance of correlating genetic findings, even when diagnostic, with clinical features, to allow precise diagnosis, optimal care, and accurate prognosis.

Automated summary

Inherited myopathies are rare diseases in the USA, affecting less than 200,000 people. Genetic testing has played a crucial role in diagnosing these disorders. However, clinical correlation is necessary due to the complex nature of genetic findings and the possible presence of coexisting neuromuscular disorders. This study identified patients with inherited myopathies and rare neuromuscular disorders, emphasizing the importance of combining genetic findings with clinical features.