Hereditary sensorimotor neuropathy with hyperelastic skin

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A rare genetic demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints high palate and minor skeletal abnormalities (e.g. pectus excavatum dolichocephaly) may also be associated.

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://www.orphadata.org. Data version June 2024

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Hereditary sensorimotor neuropathy with hyperelastic skin?

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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.

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Clinical Trials

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