Hereditary motor and sensory neuropathy with optic atrophy
- Synonyms
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; Hereditary Motor and Sensory Neuropathy VI; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Stephan Züchner
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Limb muscle weakness
- Abnormality of the eye
- Abnormality of visual evoked potentials
Abnormality of visual evoked potentials
- MedGen UID: 105509
- Concept ID: C0522214
- Finding: Finding
Abnormality of the eye
- Central scotoma
Central scotoma
- MedGen UID: 57750
- Concept ID: C0152191
- Finding: Finding
Abnormality of the eye
- Color vision defect
Color vision defect
- MedGen UID: 115964
- Concept ID: C0234629
- Finding: Finding
Abnormality of the eye
- Dysmetric saccades
Dysmetric saccades
- MedGen UID: 322908
- Concept ID: C1836392
- Finding: Finding
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Slow decrease in visual acuity
Slow decrease in visual acuity
- MedGen UID: 343976
- Concept ID: C1853141
- Finding: Finding
Abnormality of the eye
- Abnormality of visual evoked potentials
- 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
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Abnormality of the nervous system
- Anosmia
Anosmia
- MedGen UID: 1950
- Concept ID: C0003126
- Finding: Finding
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Axonal degeneration/regeneration
Axonal degeneration/regeneration
- MedGen UID: 368889
- Concept ID: C1968790
- 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
- Distal sensory impairment of all modalities
Distal sensory impairment of all modalities
- MedGen UID: 322937
- Concept ID: C1836527
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Positive Romberg sign
Positive Romberg sign
- MedGen UID: 66017
- Concept ID: C0240914
- Finding: Finding
Abnormality of the nervous system
- Steppage gait
Steppage gait
- MedGen UID: 98105
- Concept ID: C0427149
- Finding: Finding
Abnormality of the nervous system
- Anosmia
- Abnormality of the voice
- Vocal cord paresis
Vocal cord paresis
- MedGen UID: 155888
- Concept ID: C0751576
- Finding: Disease or Syndrome
Abnormality of the voice
- Vocal cord paresis
- Ear malformation
- Mild neurosensory hearing impairment
Mild neurosensory hearing impairment
- MedGen UID: 867180
- Concept ID: C4021538
- Finding: Disease or Syndrome
Ear malformation
- Tinnitus
Tinnitus
- MedGen UID: 52760
- Concept ID: C0040264
- Finding: Disease or Syndrome
Ear malformation
- Mild neurosensory hearing impairment
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