Desmin-related
myopathies are characterized by progressive, distal skeletal muscle weakness,
cardiomyopathy, and cardiac conduction disease caused by mutations of
Desmin. A 43-year-old man with a history of heart transplant due to
heart failure associated with
restrictive cardiomyopathy, presented with slowly progressive distal
muscle weakness in all four extremities for five years. On examination, predominantly distal
quadriparesis and
atrophy were noted, worse on the upper limbs, and reduced reflexes with normal sensation. His electromyographic studies were suggestive of subacute moderate motor axonal
polyneuropathy secondary to the transplant immunosuppression. The patient's father died at 33 years due to
heart failure, and his 37-year-old brother, who also had a heart transplant, had noticed the development of
muscle atrophy. Another electroneuromyography performed on our index patient confirmed features consistent with a
distal myopathy. A genetic panel for
distal myopathies with cardiac involvement identified the pathological
desmin gene mutation DES (NM_001927.4) - c.1360C>T; (p.(Arg454Trp)).
Desmin-related
myopathies are a diagnostic challenge. The beginning of neurological symptoms several years after the cardiac symptoms and the use of
immunosuppressive agents may have contributed to the early misdiagnosis.