Desmin-related myopathies (DRM) are heterogenous, with most patients experiencing early symptom onset and both skeletal and cardiac involvement over the disease course. Cardiomyopathy necessitated cardiac transplant in three patients, improving cardiac function and quality of life.
Why this matters ?
DRMs are a heterogeneous group of neuromuscular conditions linked by mutations in the muscle-specific protein desmin, characterized by progressive skeletal muscle weakness and cardiomyopathy. DRMs are typically familial with autosomal dominant inheritance but may also be sporadic and, in rare cases, familial with autosomal recessive inheritance.
A thorough description of the disease features and treatment outcomes in the cohort of patients with DRM at Mayo Clinic is warranted.