Hereditary motor and sensory neuropathy, Okinawa type

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Hereditary motor and sensory neuropathy, Okinawa type

Synonyms: HMSNP | Hereditary motor and sensory neuropathy, proximal type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Hereditary motor and sensory neuropathy, Okinawa type?

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.