Autosomal dominant Charcot-Marie-Tooth disease type 2U
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation | CMT2U
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive axonal peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy in conjunction with distal panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
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 December 2023
Newly diagnosed with
Autosomal dominant Charcot-Marie-Tooth disease type 2U?
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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.
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To fund research for treatment and/or a cure for CASK Gene Disorder
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