Desmin-related myofibrillar myopathy, is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell.
[1][2] 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.
[1] This mutation also results in muscle cell death by apoptosis and necrosis.
[1] The muscle cell may also be disorganized because the aggregates may interrupt other filament structures and/or normal cellular function.
[3] Desminopathies are very rare diseases and As of 2004[update] only 60 patients have been diagnosed, however this number probably does not accurately represent the population due to frequent mis or under diagnosis.