Charcot-Marie-Tooth Disease Differential Diagnoses

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

Differential Diagnoses

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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.

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 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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