User:Mr. Ibrahem/Charcot–Marie–Tooth disease

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For other diseases, see Charcot disease (disambiguation).
Charcot-Marie-Tooth disease
Other namesCharcot–Marie–Tooth neuropathy, peroneal muscular atrophy,[1] Dejerine-Sottas syndrome
The foot of a person with Charcot–Marie–Tooth disease with the characteristic lack of muscle, a high arch, and claw toes.
Pronunciation
SpecialtyNeurology, orthopedics
SymptomsGradual onset of weakness starting in the legs, muscle loss[2]
ComplicationsFoot deformity, trouble walking[3]
Usual onset10 to 30 years old[2]
DurationLifelong[2]
TypesCMT1, CMT2, CMT3, CMT4, CMTX[2][1]
CausesGenetic mutation[2]
Risk factorsFamily history[2]
Diagnostic methodNerve conduction study, genetic testing, nerve biopsy, nerve imaging[2]
Differential diagnosisSpinal muscular atrophy with respiratory distress type 1 (SMARD1), muscular dystrophy, multiple sclerosis[2][4]
TreatmentPhysical therapy, orthotic devices, exercise, surgery[2]
PrognosisProgressive[2]
Frequency1 in 2,500[2]

Charcot–Marie–Tooth disease (CMT) is a group of disorders that affects peripheral nerves.[3] Symptoms include gradual onset of muscle weakness starting in the legs and eventually involving the arms.[2] Both sides are affected and loss of muscle mass occurs.[2] Onset of symptoms is generally in a persons 10s or 20s.[2] About 25% of people experience pain and some develop numbness.[2][1]

It can occurs due to a number of different genetic mutations.[3] Most commonly it is due to issues with PMP22 on chromosome 17.[2] It can be autosomal dominant, X-linked, or autosomal recessive.[2] It is classified as a hereditary motor and sensory neuropathy.[2] Diagnosis may be supported by nerve conduction study, genetic testing, nerve biopsy, and nerve imaging.[2]

Treatment is supportive care which may include physical therapy, orthotic devices, and exercise programs.[2] Surgery may be done to improve foot, hip, or spine problems.[2] While the disease does not generally affect life expectancy, people do worsen with time and it can affect activities of daily living.[2]

Charcot–Marie–Tooth disease affecting about 1 in 2,500 people making it the most commonly inherited neuromuscular disorder.[2] Males are more commonly affected than females.[4] The condition was first described in 1886 by Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.[2]

References[edit]

  1. ^ a b c "Charcot-Marie-Tooth Disease". NORD (National Organization for Rare Disorders). Retrieved 19 December 2020.
  2. ^ a b c d e f g h i j k l m n o p q r s t u v w x Nagappa, M; Sharma, S; Taly, AB (January 2020). "Charcot Marie Tooth". PMID 32965834. {{cite journal}}: Cite journal requires |journal= (help)
  3. ^ a b c "Charcot-Marie-Tooth disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 December 2020.
  4. ^ a b Ferri, Fred F. (2012). Ferri's Netter Patient Advisor E-Book. Elsevier Health Sciences. p. 647. ISBN 978-1-4557-2826-8.
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