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 http://www.orphadata.org. Data version April 2024
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Hereditary motor and sensory neuropathy type 6?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.