distal myopathies/hearing loss

Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal

Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss

We present a 45-year-old male patient who presented to Accident and Emergency department with a 6-week history of pain and stiffness involving his bilateral legs. Both calves were markedly tender, and he was not able to bear weight. He also complained of numbness involving his left big toe for a few