Desmin-related myofibrillar myopathy

Presentation

Common symptoms of the disease are weakness and atrophy in the distal muscles of the lower limbs which progresses to the hands and arms, then to the trunk, neck and face. Respiratory impairment often follows.

Pathophysiology

The sarcomeres become misaligned and result in the disorganization of muscle fibers. This mutation also results in muscle cell death by apoptosis and necrosis. The muscle cell may also be disorganized because the aggregates may interrupt other filament structures and/or normal cellular function.
Desminopathies are very rare diseases and As of  2004 only 60 patients have been diagnosed, however this number probably does not accurately represent the population due to frequent mis or under diagnosis.

Diagnosis

Desminopathies are diagnosed by genetic analysis. Because mutations in several further genes might be pathogenic for skeletal and cardiac myopathies, gene panels or whole exome sequence analysis are mostly used. Sanger sequencing is consequently used to verify NGS-data.

Treatment

There is currently no cure for the disease but treatments to help the symptoms are available.

Prognosis

Prognosis strongly depends on which subtype of disease it is. Some are deadly in infancy but most are late onset and mostly manageable.