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Autosomal dominant Charcot-Marie-Tooth disease type 2F

ORPHA99940
Synonym(s) CMT2F
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
Adolescent
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal 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.


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Detailed information

Anesthesia guidelines
  • ES (2014,pdf)
  • EN (2014,pdf)
Clinical genetics review
  • EN (2014)
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