Spinocerebellar ataxia type 1
- Synonyms
- CEREBELLOPARENCHYMAL DISORDER I; Cerebelloparenchymal disorder 1; MENZEL TYPE OPCA; OLIVOPONTOCEREBELLAR ATROPHY I; OLIVOPONTOCEREBELLAR ATROPHY IV; Olivopontocerebellar atrophy 1; Olivopontocerebellar atrophy 4; SCHUT-HAYMAKER TYPE OPCA; SPINOCEREBELLAR ATROPHY I; Spinocerebellar atrophy 1
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Dysmetric saccades
Dysmetric saccades
- MedGen UID: 322908
- Concept ID: C1836392
- Finding: Finding
Abnormality of the eye
- Gaze-evoked nystagmus
Gaze-evoked nystagmus
- MedGen UID: 1808161
- Concept ID: C5574666
- Finding: Disease or Syndrome
Abnormality of the eye
- Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit
- MedGen UID: 355793
- Concept ID: C1866753
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
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 saccadic eye movements
Slow saccadic eye movements
- MedGen UID: 232942
- Concept ID: C1321329
- Finding: Finding
Abnormality of the eye
- Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia
- MedGen UID: 235616
- Concept ID: C1408507
- Finding: Disease or Syndrome
Abnormality of the eye
- Dysmetric saccades
- Abnormality of the genitourinary system
- Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction
- MedGen UID: 334804
- Concept ID: C1843663
- Finding: Finding
Abnormality of the genitourinary system
- Urinary bladder sphincter dysfunction
- 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
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Abnormality of the nervous system
- Abnormality of extrapyramidal motor function
Abnormality of extrapyramidal motor function
- MedGen UID: 115941
- Concept ID: C0234133
- Finding: Sign or Symptom
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Bulbar palsy
Bulbar palsy
- MedGen UID: 898626
- Concept ID: C4082299
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials
- MedGen UID: 870496
- Concept ID: C4024943
- 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 sensory nerve conduction velocity
Decreased sensory nerve conduction velocity
- MedGen UID: 336512
- Concept ID: C1849148
- Finding: Finding
Abnormality of the nervous system
- Dilated fourth ventricle
Dilated fourth ventricle
- MedGen UID: 376050
- Concept ID: C1847117
- Finding: Finding
Abnormality of the nervous system
- Dorsal column degeneration
Dorsal column degeneration
- MedGen UID: 870506
- Concept ID: C4024953
- Finding: Pathologic Function
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysdiadochokinesis
Dysdiadochokinesis
- MedGen UID: 115975
- Concept ID: C0234979
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Fasciculations
Fasciculations
- MedGen UID: 5124
- Concept ID: C0015644
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Impaired distal tactile sensation
Impaired distal tactile sensation
- MedGen UID: 867225
- Concept ID: C4021583
- Finding: Finding
Abnormality of the nervous system
- Impaired pain sensation
Impaired pain sensation
- MedGen UID: 373348
- Concept ID: C1837522
- Finding: Finding
Abnormality of the nervous system
- Impaired proprioception
Impaired proprioception
- MedGen UID: 346424
- Concept ID: C1856691
- Finding: Finding
Abnormality of the nervous system
- Impaired vibratory sensation
Impaired vibratory sensation
- MedGen UID: 220959
- Concept ID: C1295585
- Finding: Finding
Abnormality of the nervous system
- Limb ataxia
Limb ataxia
- MedGen UID: 196692
- Concept ID: C0750937
- Finding: Finding
Abnormality of the nervous system
- Olivopontocerebellar atrophy
Olivopontocerebellar atrophy
- MedGen UID: 10435
- Concept ID: C0028968
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Paresthesia
Paresthesia
- MedGen UID: 14619
- Concept ID: C0030554
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Progressive cerebellar ataxia
Progressive cerebellar ataxia
- MedGen UID: 140727
- Concept ID: C0393525
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Scanning speech
Scanning speech
- MedGen UID: 116113
- Concept ID: C0240952
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spinocerebellar atrophy
Spinocerebellar atrophy
- MedGen UID: 39733
- Concept ID: C0087012
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spinocerebellar tract degeneration
Spinocerebellar tract degeneration
- MedGen UID: 401075
- Concept ID: C1866751
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormality of extrapyramidal motor function
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