Charcot-Marie-Tooth Disease Medication

  • Author: Divakara Kedlaya, MBBS; Chief Editor: Jason H Calhoun, MD, FACS   more...
 
Updated: Jul 7, 2011
 

Medication Summary

Avoid drugs and medications known to cause nerve damage (eg, vincristine,[37] isoniazid, nitrofurantoin). Identify the cause of any pain as accurately as possible. Musculoskeletal pain may respond to acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs). Neuropathic pain may respond to tricyclic antidepressants or antiepileptic drugs, such as carbamazepine or gabapentin.

Dyck and colleagues,[38] as well as Ginsberg and coauthors,[39] have described a few individuals with CMT 1 and sudden deterioration in whom treatment with steroids (prednisone) or intravenous immunoglobulin produced variable levels of improvement. Sahenk and colleagues studied the effects of neurotrophin-3 on individuals with CMT 1A.[40] Passage and co-investigators reported benefit from ascorbic acid (vitamin C) in a mouse model of CMT 1.[41]

In adult patients with symptomatic CMT 1A, ascorbic acid supplementation (1.5 g/d) had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence supports treatment with ascorbic acid in adults with CMT 1A.[67]

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Nonsteroidal anti-inflammatory drugs

Class Summary

Have analgesic, anti-inflammatory, and antipyretic activities. Their mechanism of action is not known, but they may inhibit cyclooxygenase (COX) activity and prostaglandin synthesis. Other mechanisms may exist as well, such as inhibition of leukotriene synthesis, lysosomal enzyme release, lipoxygenase activity, neutrophil aggregation, and various cell membrane functions.

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Ibuprofen (Motrin, Ibuprin)

 

DOC for patients with mild to moderate pain. Inhibits inflammatory reactions and pain by decreasing prostaglandin synthesis.

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Naproxen (Naprelan, Naprosyn, Anaprox)

 

For relief of mild to moderate pain; inhibits inflammatory reactions and pain by decreasing activity of cyclooxygenase, which results in a decrease of prostaglandin synthesis.

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Cyclooxygenase-2 inhibitors

Class Summary

Although increased cost can be a negative factor, the incidence of costly and potentially fatal GI bleeds is clearly less with COX-2 inhibitors than with traditional NSAIDs. Ongoing analysis of cost avoidance of GI bleeds will further define the populations that will find COX-2 inhibitors the most beneficial.

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Celecoxib (Celebrex)

 

Inhibits primarily COX-2. COX-2 is considered an inducible isoenzyme, induced during pain and inflammatory stimuli. Inhibition of COX-1 may contribute to NSAID GI toxicity. At therapeutic concentrations, COX-1 isoenzyme is not inhibited and thus, GI toxicity may be decreased. Seek lowest dose of celecoxib for each patient.

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Tricyclic antidepressants

Class Summary

A complex group of drugs that have central and peripheral anticholinergic effects, as well as sedative effects. Tricyclic antidepressants have central effects on pain transmission, blocking the active reuptake of norepinephrine and serotonin.

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Amitriptyline (Elavil)

 

Analgesic for certain chronic and neuropathic pain. Inhibits membrane pump responsible for uptake of norepinephrine and serotonin in adrenergic and serotonergic neuron.

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Nortriptyline (Pamelor)

 

Has demonstrated effectiveness in the treatment of chronic pain. By inhibiting the reuptake of serotonin and/or norepinephrine by the presynaptic neuronal membrane, this drug increases the synaptic concentration of these neurotransmitters in the central nervous system.

Pharmacodynamic effects, such as the desensitization of adenyl cyclase and down-regulation of beta-adrenergic receptors and serotonin receptors, also appear to play a role in its mechanisms of action.

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Doxepin (Sinequan)

 

Inhibits histamine and acetylcholine activity and has proven useful in treatment of various forms of depression associated with chronic and neuropathic pain.

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Desipramine (Norpramin)

 

May increase synaptic concentration of norepinephrine in CNS by inhibiting reuptake by presynaptic neuronal membrane. May have effects in the desensitization of adenyl cyclase, down-regulation of beta-adrenergic receptors, and down-regulation of serotonin receptors.

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Anticonvulsants

Class Summary

Used to manage pain and provide sedation in neuropathic pain.

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Gabapentin (Neurontin)

 

Membrane stabilizer, a structural analogue of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), which paradoxically is thought not to exert effect on GABA receptors. Appears to exert action via the alpha(2)delta1 and alpha(2)delta2 subunit of the calcium channel.

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Analgesics

Class Summary

Pain control is essential to quality patient care. Analgesics ensure patient comfort and have sedating properties, which are beneficial to patients who experience pain.

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Acetaminophen (Tylenol)

 

DOC for pain in patients with documented hypersensitivity to aspirin or NSAIDs, with upper GI disease, or who are taking oral anticoagulants.

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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, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, and Colorado Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

James K DeOrio, MD  Director of Foot and Ankle Fellowship Program, Assistant Professor of Orthopedic Surgery, Orthopedic Surgery, St Lukes Hospital, Jacksonville, Florida

James K DeOrio, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Florida Medical Association, and German Society of Neurology

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Shepard R Hurwitz, MD  Executive Director, American Board of Orthopaedic Surgery

Shepard R Hurwitz, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association for the Advancement of Science, American College of Rheumatology, American College of Sports Medicine, American College of Surgeons, American Diabetes Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Association for the Advancement of Automotive Medicine, Eastern Orthopaedic Association, Orthopaedic Research Society, Orthopaedic Trauma Association, and Southern Orthopaedic Association

Disclosure: Nothing to disclose.

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Jason H Calhoun, MD, FACS  Frank J Kloenne Chair in Orthopedic Surgery, Professor and Chair, Department of Orthopedics, The Ohio State University Medical Center

Jason H Calhoun, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Diabetes Association, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Missouri State Medical Association, Musculoskeletal Infection Society, Southern Medical Association, Southern Orthopaedic Association, Texas Medical Association, and Texas Orthopaedic Association

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.
Table 1
CMT TypeChromosome; Inheritance PatternAge of OnsetClinical FeaturesAverage NCVs§
CMT 1A (PMP-22 dupl.)17p11; AD*First decadeDistal weakness15-20 m/s
CMT 1B (P0 -MPZ)**1q22; ADFirst decadeDistal weakness< 20 m/s
CMT 1C (non A, non B)16p13;ADSecond decadeDistal weakness26-42 m/s
CMT 1D (early growth response [EGR]–2)#[21] 10q21; ADFirst decadeDistal weakness15-20 m/s
CMT 1E17p11; ADFirst decadeDistal weakness, deafness15-20 m/s
CMT 1F8p21; ADFirst decadeDistal weakness15-20 m/s
CMT X (Connexin-32)[22, 23, 24, 25, 26] Xq13; XD‡Second decadeDistal weakness25-40 m/s
CMT 2A1p36; AD10 yDistal weakness>38 m/s
CMT 2B3q; ADSecond decadeDistal weakness,



sensory loss, skin ulcers



Axon loss; Normal
CMT 2C12q23-q24, ADFirst decadeVocal cord, diaphragm, and



distal weakness



>50 m/s
CMT 2D7p14; AD16-30 yDistal weakness, upper limb predominantlyAxon loss; N††
CMT 2E8p21; AD10-30 yDistal weakness, lower limb predominantlyAxon loss; N
CMT 2F7q11-q21; AD15-25 yDistal weaknessAxon loss; N
CMT 2G12q12-q13; ?AD9-76 yDistal weaknessAxon loss; N
CMT 2H?; AR†15-25 yDistal weakness, Pyramidal featuresAxon loss; N
CMT 2I1q22; AD47-60 yDistal weaknessAxon loss; N
CMT 2J1q22; AD40-50 yDistal weakness, hearing lossAxon loss; N
CMT 2K8q13-q21; AR< 4 yDistal weaknessAxon loss; N
CMT 2L12q24; AD15-25 yDistal weaknessAxon loss; N
CMT R-Ax (Ouvrier)ARFirst decadeDistal weaknessAxon loss; N
CMT R-Ax (Moroccan)1q21; ARSecond decadeDistal weaknessAxon loss; N
Cowchock syndromeXq24-q26First decadeDistal weakness, deafness, mental retardationAxon loss; N
HNPP|| (PMP-22)



Or tomaculous neuropathy



17p11; ADAll agesEpisodic weakness and numbnessConduction Blocks
Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3P0; AR



PMP-22; AD



8q23; AD



2 ySevere weakness< 10 m/s
Congenital



hypomyelination (CH)



P0, EGR2 or PMP-22



AR



BirthSevere weakness< 10 m/s
CMT 4A8q13; ARChildhoodDistal weaknessSlow
CMT 4B



(Myotubular in-related



protein-2)[17]



11q23; AR2-4 yDistal and proximal



weakness



Slow
CMT 4C5q23; AR5-15 yDelayed walking14-32 m/s
CMT 4D (Lom)



(N-myc Downstream-



Regulated Gene 1)



8q24; AR1-10 yDistal muscle wasting, foot and hand deformities10-20 m/s
CMT 4E (EGR2)10q21; ARBirthInfant hypotonia9-20 m/s
CMT 4G10q23.2; AR8-16 yearsDistal weakness9-20 m/s
CMT 4H12p11.21-q13.11; AR0-2 yearsDelayed walking9-20 m/s
CMT 4F19q13; AR1-3 yMotor delayAbsent
*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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