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Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease Follow-up

  • Author: Divakara Kedlaya, MBBS; Chief Editor: Robert H Meier, III, MD  more...
 
Updated: Jan 07, 2016
 

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.[59]

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Deterrence

Regular and proper follow-up and therapeutic interventions are necessary to avoid joint contractures and deformities.[59]

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.[87]

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Complications

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.

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Prognosis

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.[88] 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.[89]

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Patient Education

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.[90]

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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Contributor Information and Disclosures
Author

Divakara Kedlaya, MBBS Clinical Associate Professor, Department of Physical Medicine and Rehabilitation, Loma Linda University School of Medicine; Medical Director, Physical Medicine and Rehabilitation and Pain Management, St Mary Corwin Medical Center

Divakara Kedlaya, MBBS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, Colorado Medical Society, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Michael T Andary, MD, MS Professor, Residency Program Director, Department of Physical Medicine and Rehabilitation, Michigan State University College of Osteopathic Medicine

Michael T Andary, MD, MS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine, American Medical Association, Association of Academic Physiatrists

Disclosure: Received honoraria from Allergan for speaking and teaching.

Chief Editor

Robert H Meier, III, MD Director, Amputee Services of America; Active Medical Staff, Presbyterian/St Luke’s Hospital, Spalding Rehabilitation Hospital, Select Specialty Hospital; Consulting Staff, Kindred Hospital

Robert H Meier, III, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Additional Contributors

Milton J Klein, DO, MBA Consulting Physiatrist, Heritage Valley Health System-Sewickley Hospital and Ohio Valley General Hospital

Milton J Klein, DO, MBA is a member of the following medical societies: American Academy of Disability Evaluating Physicians, American Academy of Medical Acupuncture, American Academy of Osteopathy, American Academy of Physical Medicine and Rehabilitation, American Medical Association, American Osteopathic Association, American Osteopathic College of Physical Medicine and Rehabilitation, American Pain Society, Pennsylvania Medical Society

Disclosure: Nothing to disclose.

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Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A DNA test showing duplication in the short arm of chromosome 17 (A) compared with normal (B).
Nerve conduction study showing decreased nerve conduction velocity in the median nerve in an 18-year-old woman with Charcot-Marie-Tooth disease type 1.
Foot of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
Hands of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
Right ulnar motor nerve conduction study in a 29-year-old patient with advanced Charcot-Marie-Tooth disease type 1.
Left ulnar motor nerve conduction study in 29-year-old patient with advanced Charcot-Marie-Tooth disease type 1.
Table. Charcot-Marie-Tooth Disorders: Genetic and Clinical Feature Comparison
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



distal weakness



>50 m/s
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)[35]



or tomaculous neuropathy



17p11; AD All ages Episodic weakness and numbness Conduction Blocks
Dejerine-Sottas-syndrome (DSS) or HMSN-3[36] P0; AR



PMP-22; AD



8q23; AD



2 y Severe weakness < 10 m/s
Congenital



hypomyelination (CH)



P0, EGR-2 or PMP-22



AR



Birth Severe weakness < 10 m/s
CMT-4A[37] 8q13; AR Childhood Distal weakness Slow
CMT-4B



(myotubularin- related



protein 2)[38, 39]



11q23; AR 2-4 y Distal and proximal



weakness



Slow
CMT-4C 5q23; AR 5-15 y Delayed walking 14-32 m/s
CMT-4D (Lom)



(N-myc downstream-



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
*Autosomal dominant



†Autosomal recessive



‡X-linked dominant



§Nerve conduction velocities



||Hereditary neuropathy with liability to pressure palsy



¶Peripheral myelin protein



#Early growth response



**Myelin protein zero



††Normal



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