Hereditary motor and sensory neuropathy type 6

Get in touch with RARE Concierge.

Contact RARE Concierge

Hereditary motor and sensory neuropathy type 6

Synonyms: CMT6 | Charcot-Marie-Tooth disease type 6 | HMSN 6 | HMSN VI | Hereditary motor and sensory neuropathy type VI | Peripheral neuropathy and optic atrophy

A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive peripheral axonal sensorimotor neuropathy (of variable severity) affecting predominantly the distal lower limbs associated with progressive variably severe optic atrophy which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy hypo/areflexia foot deformities poor visual acuity (often with a central scotoma) nystagmus and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss major joint contractures anosmia scoliosis/lumbar hyperlordosis cognitive impairment and vocal cord paresis.

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 Data version December 2023

Newly diagnosed with
Hereditary motor and sensory neuropathy type 6?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.