Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe rapidly progressing demyelinating axonal or intermediate sensorimotor neuropathy usually affecting first and more severely the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy sensory loss frequent pes cavus foot deformity) patients commonly present delayed motor development vocal cord paresis mild sensory loss abolished deep tendon reflexes and skeletal deformities.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Charcot-Marie-Tooth disease type 4A?
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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.
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.