Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease Follow-up
- Author: Divakara Kedlaya, MBBS; Chief Editor: Robert H Meier, III, MD more...
Further Outpatient Care
Patients should have regular follow-up visits to check for deterioration in function and the development of contractures. This follow-up allows early detection of complications. Proper interventions early in the disease course help to avoid significant and permanent functional limitations.
Regular and proper follow-up and therapeutic interventions are necessary to avoid joint contractures and deformities.
Proper genetic counseling helps parents to understand the risk of having a child with this disorder and gives them a chance to make informed decisions about having children.
Use of Vincristine is clearly contraindicated in patients with known or possible CMT-1A and most likely HNPP. Use of vincristine in other CMT subtypes should be considered with caution. Other agents that have reported to exacerbate CMT-related neuropathy in the Charcot-Marie-Tooth Association (CMTA) database include nitrous oxide, metronidazole, nitrofurantoin, phenytoin, statins and sertraline.
Due to a loss of protective sensation distally in all 4 limbs, patients with Charcot-Marie-Tooth disease (CMT) are susceptible to skin breakdown, burns, nonhealing foot ulcers, and in severe cases, bony, bilateral foot deformities. As mentioned previously, orthoses are required for the treatment of foot drop or to accommodate bony foot deformities. If not fit properly, the orthoses themselves become a source of skin breakdown secondary to associated distal sensory impairment.
Maternal CMT increases the risk for complications during delivery; this risk is linked to a higher occurrence, in such cases, of emergency interventions during birth.
The prognosis for the different types of Charcot-Marie-Tooth disease (CMT) varies; it depends on the condition's clinical severity (see the table under Causes).
Generally, CMT is a slowly progressive neuropathy, with eventual disability occurring secondary to distal muscle weakness and deformities.
CMT usually does not shorten a patient's expected life span.
Shy and colleagues developed the CMT neuropathy score, which is a modification of the total neuropathy score. This has been shown to be a validated measure of length-dependent axonal and demyelinating CMT disability and can be investigated as an end point for longitudinal studies and clinical trials of CMT.
The Inherited Neuropathies Consortium developed an 11-item CMT Pediatric Scale (CMTPedS) to measure impairment of children with CMT. Testing showed the scale to be a reliable, valid, and sensitive global measure of disability for children from the age of 3 years.
Genetic counseling is the process of providing individuals and families with information on the nature, inheritance patterns, and implications of genetic disorders in order to help them make informed medical and personal decisions. Offer patients with Charcot-Marie-Tooth disease (CMT) genetic counseling so that they can make informed decisions regarding the potential risk of passing the disease to their children.
Certain drugs and medications, such as vincristine,[73, 74] isoniazid, paclitaxel, cisplatin, and nitrofurantoin, are known to cause nerve damage and should be avoided.
Routine exercise within the individual's capability is encouraged; many individuals remain physically active.
Obesity should be avoided, because it makes walking more difficult.
Daily heel-cord stretching exercises are warranted to prevent Achilles tendon shortening.
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|CMT Type||Chromosome; Inheritance Pattern||Age of Onset||Clinical Features||Average NCVs§|
|CMT-1A (PMP-22¶ dupl.)||17p11.2; AD*||First decade||Distal weakness||15-20 m/s|
|CMT-1B (P0 -MPZ)**||1q23.3; AD||First decade||Distal weakness||< 20 m/s|
|CMT-1C (non-A, non-B) (LITAF)||16p13.13;AD||Second decade||Distal weakness||26-42 m/s|
|CMT-1D (EGR-2)#||10q21.3; AD||First decade||Distal weakness||15-20 m/s|
|CMT-1E (PMP22)||17p11.2; AD||First decade||Distal weakness, deafness||15-20 m/s|
|CMT-1F (NEFL)||8p21.2; AD||First decade||Distal weakness||15-20 m/s|
|CMT-X (connexin-32)[31, 32, 33, 34]||Xq13; XD‡||Second decade||Distal weakness||25-40 m/s|
|CMT-2A||1p36; AD||10 y||Distal weakness||>38 m/s|
|CMT-2B||3q21; AD||Second decade||Distal weakness,
sensory loss, skin ulcers
|Axon loss; Normal|
|CMT-2C||12q23-q24, AD||First decade||Vocal cord, diaphragm, and
|CMT-2D||7p14; AD||16-30 y||Distal weakness, upper limb predominantly||Axon loss; N††|
|CMT-2E||8p21; AD||10-30 y||Distal weakness, lower limb predominantly||Axon loss; N|
|CMT-2F||7q11-q21; AD||15-25 y||Distal weakness||Axon loss; N|
|CMT-2G||12q12-q13; AD||9-76 y||Distal weakness||Axon loss; N|
|CMT-2H||8q21; AD||15-25 y||Distal weakness, pyramidal features||Axon loss; N|
|CMT-2I||1q23; AD||47-60 y||Distal weakness||Axon loss; N|
|CMT-2J||1q23; AD||40-50 y||Distal weakness, hearing loss||Axon loss; N|
|CMT-2K||8q13-q21; AD||< 4 y||Distal weakness||Axon loss; N|
|CMT-2L||12q24; AD||15-25 y||Distal weakness||Axon loss; N|
|CMT–R-Ax (Ouvrier)||AR||First decade||Distal weakness||Axon loss; N|
|CMT–R-Ax (Moroccan)||1q21; AR||Second decade||Distal weakness||Axon loss; N|
|Cowchock syndrome||Xq24-q26||First decade||Distal weakness, deafness, mental retardation||Axon loss; N|
|HNPP|| (PMP-22 deletion)
or tomaculous neuropathy
|17p11; AD||All ages||Episodic weakness and numbness||Conduction Blocks|
|Dejerine-Sottas-syndrome (DSS) or HMSN-3||P0; AR
|2 y||Severe weakness||< 10 m/s|
|P0, EGR-2 or PMP-22
|Birth||Severe weakness||< 10 m/s|
|CMT-4A||8q13; AR||Childhood||Distal weakness||Slow|
protein 2)[38, 39]
|11q23; AR||2-4 y||Distal and proximal
|CMT-4C||5q23; AR||5-15 y||Delayed walking||14-32 m/s|
regulated gene 1)
|8q24; AR||1-10 y||Distal muscle wasting, foot and hand deformities||10-20 m/s|
|CMT-4E (EGR-2)||10q21; AR||Birth||Infant hypotonia||9-20 m/s|
|CMT-4G||10q23.2; AR||8-16 years||Distal weakness||9-20 m/s|
|CMT-4H||12p11.21-q13.11; AR||0-2 years||Delayed walking||9-20 m/s|
|CMT-4F||19q13; AR||1-3 y||Motor delay||Absent|
§Nerve conduction velocities
||Hereditary neuropathy with liability to pressure palsy
¶Peripheral myelin protein
#Early growth response
**Myelin protein zero