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Spinocerebellar ataxia 8(SCA8)

MedGen UID:
332457
Concept ID:
C1837454
Disease or Syndrome
Synonyms: SCA8
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
autosomal dominant
MedGen UID:
832180
Concept ID:
CN227381
Intellectual Product
Source: Orphanet
Describes a disorder in which only one mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype and which carries a 50% risk of being passed on to offspring.
 
Genes (locations): ATXN8 (13q21); ATXN8OS (13q21.33)
OMIM®: 608768
Orphanet: ORPHA98760

Definition

SCA8 is a slowly progressive ataxia with disease onset typically occurring in adulthood. Onset ranges from age one to 73 years. The progression is typically over decades regardless of the age of onset. Common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability; life span is typically not shortened. Some individuals present with nystagmus, dysmetric saccades and, rarely, ophthalmoplegia. Tendon reflex hyperreflexity and extensor plantar responses are present in some severely affected individuals. Life span is typically not shortened. [from GeneReviews]

Clinical features

Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Muscle Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include . - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Atrophy (wasting) of the cerebellum.
Morphological abnormality of the pyramidal tract
MedGen UID:
866549
Concept ID:
C4020859
Disease or Syndrome
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Muscle Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 8
Follow this link to review classifications for Spinocerebellar ataxia 8 in Orphanet.

Professional guidelines

PubMed

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. [Epub ahead of print] PMID: 20050888

Recent clinical studies

Etiology

Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, Bhidayasiri R, Jitkritsadakul O, Pongpakdee S, Wetchaphanphesat S, Boonkongchuen P, Pulkes T
BMC Neurol 2015 Sep 15;15:166. doi: 10.1186/s12883-015-0425-y. [Epub ahead of print] PMID: 26374734Free PMC Article
Andrés AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J
Neurosci Lett 2003 Jan 23;336(3):143-6. PMID: 12505613
Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM
Arch Ital Biol 2002 Oct;140(4):323-9. PMID: 12228985

Diagnosis

Ushe M, Perlmutter JS
Mov Disord 2012 Dec;27(14):1741-2. doi: 10.1002/mds.25295. PMID: 23283653Free PMC Article
Krysa W, Rajkiewicz M, Sułek A
Neurol Neurochir Pol 2012 Mar-Apr;46(2):113-20. PMID: 22581592
Koutsis G, Karadima G, Pandraud A, Sweeney MG, Paudel R, Houlden H, Wood NW, Panas M
J Neurol 2012 Sep;259(9):1874-8. doi: 10.1007/s00415-012-6430-9. [Epub ahead of print] PMID: 22297462
Gupta A, Jankovic J
Parkinsonism Relat Disord 2009 Nov;15(9):621-6. Epub 2009 Jun 25 doi: 10.1016/j.parkreldis.2009.06.001. [Epub ahead of print] PMID: 19559641
Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM
Arch Ital Biol 2002 Oct;140(4):323-9. PMID: 12228985

Therapy

Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM
Arch Ital Biol 2002 Oct;140(4):323-9. PMID: 12228985

Prognosis

Felling RJ, Barron TF
Pediatr Neurol 2005 Aug;33(2):136-8. doi: 10.1016/j.pediatrneurol.2005.02.010. PMID: 16087061

Clinical prediction guides

Gupta A, Jankovic J
Parkinsonism Relat Disord 2009 Nov;15(9):621-6. Epub 2009 Jun 25 doi: 10.1016/j.parkreldis.2009.06.001. [Epub ahead of print] PMID: 19559641
Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM
Arch Ital Biol 2002 Oct;140(4):323-9. PMID: 12228985
Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML
Ann Neurol 2000 Sep;48(3):354-61. PMID: 10976642

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