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Charcot-Marie-Tooth disease axonal type 2F
rareAutosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
- Identifiers
- MONDO:0011687 OMIM:606595Orphanet:99940
- Causal genes
- HSPB1
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2F · Charcot Marie Tooth disease type 2F · Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1 · Charcot-Marie-Tooth disease type 2F · Charcot-Marie-Tooth disease, axonal, type 2F
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