Charcot-Marie-Tooth disease type 2B2
- Synonyms
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2; CMT 2B2; Charcot-Marie-Tooth Neuropathy Type 2B2; Charcot-Marie-Tooth disease, axonal, Type 2B2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2; Charcot-Marie-Tooth disease, neuronal, Type 2B2
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (37 available)
Clinical features
Help- 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
- Distal amyotrophy
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- 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
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Areflexia
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