Multiple system atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTENSION, ORTHOSTATIC, INCLUDED
MSA1, SUSCEPTIBILITY TO AUTONOMIC FAILURE, PURE, INCLUDED
MSA1
MSA
Multisystem atrophy
Number of Symptoms 37
OrphanetNr: 102
OMIM Id: 146500
ICD-10: G90.3
UMLs: C0393571
MeSH: D019578
MedDRA: 10064060
Snomed: 230297002

Prevalence, inheritance and age of onset:

Prevalence: 3.7 of 100 000 [Orphanet]
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Miscellaneous movement disorder due to neurodegenerative disease
 -Rare neurologic disease
Neurodegenerative disease with dementia
 -Rare neurologic disease
Primary orthostatic hypotension
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000012) Urinary urgency 35 / 7739
2
 (HPO:0000802) Impotence 20 / 7739
3
 (HPO:0000020) Urinary incontinence 75 / 7739
4
 (HPO:0001089) Iris atrophy 8 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000640) Gaze-evoked nystagmus 27 / 7739
7
 (HPO:0002063) Rigidity 92 / 7739
8
 (HPO:0001300) Parkinsonism 75 / 7739
9
 (HPO:0002067) Bradykinesia 62 / 7739
10
 (HPO:0002172) Postural instability 22 / 7739
11
 (HPO:0001347) Hyperreflexia 363 / 7739
12
 (HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0002459) Dysautonomia 34 / 7739
16
 (HPO:0001278) Orthostatic hypotension 24 / 7739
17
 (HPO:0001337) Tremor 200 / 7739
18
 (HPO:0003487) Babinski sign 179 / 7739
19
 (HPO:0000970) Anhidrosis 24 / 7739
20
 (HPO:0000966) Hypohidrosis 41 / 7739
21
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
22
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
23
 (HPO:0003581) Adult onset 117 / 7739
24
 (OMIM) Cognitive impairment, mild 15 / 7739
25
 (HPO:0002180) Neurodegeneration 31 / 7739
26
 (HPO:0003812) Phenotypic variability 129 / 7739
27
 (OMIM) Neurodegeneration in the substantia nigra 1 / 7739
28
 (OMIM) Neurodegeneration in the basal ganglia 1 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Incomplete bladder emptying 2 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (HPO:0003676) Progressive disorder 148 / 7739
33
 (HPO:0003745) Sporadic 131 / 7739
34
 (OMIM) Nigrostriatal degeneration 1 / 7739
35
 (OMIM) Neurodegeneration in the cerebellum 1 / 7739
36
 (OMIM) Neuropathology shows alpha-synuclein-containing cytoplasmic inclusions in glial cells 1 / 7739
37
 (OMIM) Extraocular movement difficulties 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized ...
Diagnosis OMIM Gilman et al. (1998) reported the conclusions of a consensus report for the diagnosis of MSA. Clinical criteria for inclusion centered on 4 domains: autonomic failure/urinary dysfunction, parkinsonism, cerebellar ataxia, and corticospinal dysfunction. Definitive diagnosis requires pathologic confirmation, ...
Clinical Description OMIM MSA typically shows onset in middle age. Parkinsonian features include bradykinesia, rigidity, postural instability, hypokinetic speech, and tremor; response to L-dopa is poor. Cerebellar dysfunction includes gait ataxia, dysarthria, and disorders of extraocular movement. Autonomic insufficiency results in ...
Molecular genetics OMIM In affected members of 2 unrelated Japanese families with multiple system atrophy, one of which was reported by Hara et al. (2007), The Multiple-System Atrophy Research Collaboration (2013) identified homozygous or compound heterozygous mutations in the COQ2 gene ...
Population genetics OMIM In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000; of these, 7% were thought to have the Shy-Drager syndrome.