Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease Differential Diagnoses

  • Author: Divakara Kedlaya, MBBS; Chief Editor: Robert H Meier III, MD   more...
 
Updated: May 1, 2012
 
 

Differential Diagnoses

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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

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, and Pennsylvania Medical Society

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

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, and Association of Academic Physiatrists

Disclosure: Allergan Honoraria Speaking and teaching

Kelly L Allen, MD  Medical Director, Medevals

Disclosure: Nothing to disclose.

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 and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

References

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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. Charcot-Marie-Tooth Disorders: Genetic and Clinical Feature Comparison
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 (EGR-2)#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)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 HMSN-3P0; AR



PMP-22; AD



8q23; AD



2 ySevere weakness< 10 m/s
Congenital



hypomyelination (CH)



P0, EGR-2 or PMP-22



AR



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



(myotubularin- related



protein 2)



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 (EGR-2)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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