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Charcot Marie Tooth Disease (CMT)

Name of disease:

Charcot-Marie-Tooth Disease (CMT)

ICD-10 diagnosis code:

G60.0

Causes:

>It can be divided into 4 subtypes: CMT1, CMT2, CMT3, CMT4 and CMTX. CMT1 is caused by mutation of gene involving in the myelin. CMT2 is caused by mutation of gene involving in the axon of neurons. CMT4 is caused by mutation of GDAP1 gene in chromosome 8. The mutated gene responsible for CMTX has not yet been identified.

Mode of inheritance:

Most cases of Charcot Marie Tooth Disease (CMT disease) can be inherited and run in families CMT1 appears to have an autosomal dominant pattern of inheritance and is more common than CMT2 CMT2 also shows an autosomal dominant pattern of inheritance CMT4 shows an autosomal recessive form of inheritance CMTX shows an X-linked dominant pattern of inheritance.

Prevalence:

5.7/ 100,000

Diagnosis:

Diagnosis of CMT disease based on symptoms and family history of patients as well as the clinical tests, which might be challenging Nerve conduction velocity test can be done to support the diagnosis. Molecular genetic testing can also be done to confirm the diagnosis

Age of onset:

Adolescence

Common signs and symptoms:

Muscle weakness and atrophy, which occur first in distal legs than later in hands Decreased sensitivity to heat, touch pain Trouble with fine motor skills High-stepped gait Frequent tripping or falling Hammertoe High foot arch and flat feet Breathing difficult in severe case

Available treatments (medicinal and non-medicinal):

Current treatment is mainly directed towards the symptoms of CMT disease. For example, physical therapy, leg braces and surgery are available to correct the deformities.

Disease management tips:

The management of patients with CMT disease requires an experienced, multidisciplinary approach to tackle the signs and symptoms of CMT disease. Early treatment program is important to delay or reduce degeneration and muscle weakness before it progresses to disability. Therefore, the patients should do muscle strength training, muscle and ligament stretching and moderate aerobic exercise. For young patients, vocational training can be provided to them to reach their potential.

References:

https://rarediseases.org/rare-diseases/charcot-marie-tooth-disease/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585838/

Other useful websites:

More about the disease: https://www.ninds.nih.gov/Disorders/Patient-caregiver-education/Fact-sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet Patient groups: Charcot-Marie-Tooth Associationhttps://www.cmtausa.org