Charcot-Marie-Tooth disease type 4A
- Synonyms
- Charcot-Marie-Tooth Neuropathy Type 4A; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Hammertoe
Hammertoe
- MedGen UID: 209712
- Concept ID: C1136179
- Finding: Anatomical Abnormality
Abnormality of limbs
- Ulnar claw
Ulnar claw
- MedGen UID: 871311
- Concept ID: C4025799
- Finding: Congenital Abnormality
Abnormality of limbs
- Hammertoe
- Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Axonal degeneration
Axonal degeneration
- MedGen UID: 332464
- Concept ID: C1837496
- Finding: Finding
Abnormality of the nervous system
- Basal lamina onion bulb formation
Basal lamina onion bulb formation
- MedGen UID: 401045
- Concept ID: C1866637
- Finding: Finding
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity
- MedGen UID: 388130
- Concept ID: C1858729
- Finding: Finding
Abnormality of the nervous system
- Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers
- MedGen UID: 346872
- Concept ID: C1858285
- Finding: Finding
Abnormality of the nervous system
- Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity
- MedGen UID: 336512
- Concept ID: C1849148
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Hypertrophic nerve changes
Hypertrophic nerve changes
- MedGen UID: 322038
- Concept ID: C1832776
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence
- MedGen UID: 395200
- Concept ID: C1859200
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Onion bulb formation
Onion bulb formation
- MedGen UID: 376237
- Concept ID: C1847906
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal degeneration
Peripheral axonal degeneration
- MedGen UID: 871339
- Concept ID: C4025830
- Finding: Finding
Abnormality of the nervous system
- Segmental peripheral demyelination
Segmental peripheral demyelination
- MedGen UID: 870491
- Concept ID: C4024938
- Finding: Finding
Abnormality of the nervous system
- Areflexia
- EuroGenetest, 2010Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP
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