Diagnostic Considerations

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

Acquired nongenetic causes of peripheral neuropathies
Vitamin B12 deficiency
Thyroid disease
Diabetes mellitus
Vasculitis
Amyloid associated with chronic inflammation
Occult malignancy
Heavy-metal intoxication
Chronic inflammatory demyelinating polyneuropathy
Motor neuropathy with multiple conduction block
Other genetic neuropathies
Familial brachial plexus neuropathy (ie, hereditary neuralgic amyotrophy)
Autosomal recessive genetic disorders, such as Refsum disease or metachromatic leukodystrophy
X-linked recessive genetic disorders, such as adrenomyeloneuropathy or Pelizaeus-Merzbacher disease
Amyloid neuropathies
Hereditary ataxias with neuropathy (eg, Friedreich ataxia)

Blindness, seizures, dementia, and mental retardation are not part of Charcot-Marie-Tooth syndrome.

Differential Diagnoses

Workup

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Media Gallery

Foot deformities in 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A DNA test showing duplication in short arm of chromosome 17 (A); compared with normal (B).
Nerve conduction study showing decreased nerve conduction velocity in median nerve in 18-year-old woman with Charcot-Marie-Tooth disease type 1.
Cavovarus feet with heels visible from front ("peekaboo" sign).
High arch typical of patients with cavus feet.
Both heels showing varus deformity when observed from back.
Coleman block test showing lack of correction of hindfoot varus malalignment when block is placed under outer border of foot.

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Table 1. Charcot-Marie-Tooth Disorders: Genetic and Clinical Feature Comparison

Table 1. 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; AD*	First decade	Distal weakness	15-20 m/s
CMT 1B (P₀ -MPZ)**	1q22; AD	First decade	Distal weakness	< 20 m/s
CMT 1C (non A, non B)	16p13;AD	Second decade	Distal weakness	26-42 m/s
CMT 1D (early growth response [EGR]-2)^[#]^[25]	10q21; AD	First decade	Distal weakness	15-20 m/s
CMT 1E	17p11; AD	First decade	Distal weakness, deafness	15-20 m/s
CMT 1F	8p21; AD	First decade	Distal weakness	15-20 m/s
CMT X (Connexin-32)^{[26, 27, 28, 29, 30]}	Xq13; XD^‡	Second decade	Distal weakness	25-40 m/s
CMT 2A	1p36; AD	10 y	Distal weakness	>38 m/s
CMT 2B	3q; 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	?; AR^†	15-25 y	Distal weakness, Pyramidal features	Axon loss; N
CMT 2I	1q22; AD	47-60 y	Distal weakness	Axon loss; N
CMT 2J	1q22; AD	40-50 y	Distal weakness, hearing loss	Axon loss; N
CMT 2K	8q13-q21; AR	< 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) Or tomaculous neuropathy	17p11; AD	All ages	Episodic weakness and numbness	Conduction Blocks
Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3	P₀; AR PMP-22; AD 8q23; AD	2 y	Severe weakness	< 10 m/s
Congenital hypomyelination (CH)	P₀, EGR2 or PMP-22 AR	Birth	Severe weakness	< 10 m/s
CMT 4A	8q13; AR	Childhood	Distal weakness	Slow
CMT 4B (Myotubular in-related protein-2)^[18]	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 (EGR2)	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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Author

Divakara Kedlaya, MBBS Locum Provider, Physical Medicine and Rehabilitation and Pain Management

Divakara Kedlaya, MBBS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation

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.

Chief Editor

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS Professor of Orthopedic Surgery, Chief, Division of Foot and Ankle Surgery, Director, Foot and Ankle Fellowship Program, Department of Orthopedic Surgery, University of Texas Medical Branch School of Medicine

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Orthopaedic Trauma Association, Texas Orthopaedic Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Styker.

Additional Contributors

James K DeOrio, MD Professor of Orthopedics, Director, Duke Foot and Ankle Fellowship, Duke University Medical Center, Duke University School of Medicine; Associate Professor, Mayo Clinic College of Medicine; Clinical Assistant Professor, F Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences

James K DeOrio, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Association of Graduates, United States Air Force Academy, Doctors Mayo Society, Mayo Clinic Alumni Association, Society of Air Force Clinical Surgeons, Society of Military Orthopaedic Surgeons

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Exactech; Treace Medical; Additive; Mirus; Crossroads Orthopedics<br/>Serve(d) as a speaker or a member of a speakers bureau for: Exactech; Treace Medical; Additive; Mirus; WoultersKluwer; Crossroads Orthopedics<br/>Received income in an amount equal to or greater than $250 from: Exactech; Treace Medical; Additive; Mirus; WoultersKluwer; Crossroads Orthopedics.

Charcot-Marie-Tooth Disease Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

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