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SCA3
MCID: MCH002
MIFTS: 64
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Machado-Joseph Disease (SCA3)
Categories:
Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Machado-Joseph Disease:
Characteristics:Orphanet epidemiological data:59
spinocerebellar ataxia type 3
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Portugal),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: adult; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset in third to fourth decade wide clinical variability normal alleles contain up to 44 repeats pathogenic alleles contain 52 to 86 repeats incomplete penetrance with 45 to 51 repeats genetic anticipation HPO:32
machado-joseph disease:
Inheritance genetic anticipation autosomal dominant inheritance Onset and clinical course progressive GeneReviews:24
Penetrance
A zone of cag trinucleotide repeat lengths that displays reduced penetrance is less firmly established in individuals with sca3 than in several other sca disorders caused by trinucleotide expansion. however, rare intermediate-length alleles of 45 to approximately 60 cag repeats may show reduced penetrance...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson�??s disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system.
SCA3 is caused by a mutation in the ATXN3 gene and inheritance is autosomal dominant. There is no medication that slows the progressive course of the disease; management aims to relieve some symptoms and improve quality of life. Life expectancy ranges from the mid-30s for those with the most severe forms, to a nearly normal life expectancy for those with milder forms.
MalaCards based summary : Machado-Joseph Disease, also known as mjd, is related to spinocerebellar ataxia 2 and olivopontocerebellar atrophy, and has symptoms including ataxia, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Akt Signaling. The drugs Lithium carbonate and Glutamic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are nystagmus and diplopia Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. Genetics Home Reference : 25 Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day. OMIM : 57 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease. Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008). (109150) NINDS : 54 Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements. UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 3: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
GeneReviews:
NBK1196
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:109150Human phenotypes related to Machado-Joseph Disease:59 32 (show all 48)
UMLS symptoms related to Machado-Joseph Disease:ataxia, abnormal pyramidal signs, abnormality of extrapyramidal motor function, bradykinesia, chronic pain, ataxia, truncal, cerebellar ataxia, muscle rigidity, muscular fasciculation, muscle cramp, muscle spasticity MGI Mouse Phenotypes related to Machado-Joseph Disease:46
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Drugs for Machado-Joseph Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:(show all 23)
Cochrane evidence based reviews: machado-joseph disease |
MalaCards organs/tissues related to Machado-Joseph Disease:41
Eye,
Tongue,
Cerebellum,
Spinal Cord,
Brain,
Testes,
Skeletal Muscle
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Articles related to Machado-Joseph Disease:(show top 50) (show all 440)
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Genes related to Machado-Joseph Disease (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Machado-Joseph Disease:6
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Search
GEO
for disease gene expression data for Machado-Joseph Disease.
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Pathways related to Machado-Joseph Disease according to KEGG:37
Pathways related to Machado-Joseph Disease according to GeneCards Suite gene sharing:
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Cellular components related to Machado-Joseph Disease according to GeneCards Suite gene sharing:
Biological processes related to Machado-Joseph Disease according to GeneCards Suite gene sharing:
Molecular functions related to Machado-Joseph Disease according to GeneCards Suite gene sharing:
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