Genetic Diseases

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus. HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. Clinical Features. Abnormality of metabolism/homeostasis. Abnormality of the musculoskeletal system. Abnormality of the nervous system.

Branchio-oto-renal syndrome (BOR) , is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries. A 2014 review found 250 such cases in the country of Japan.