MCID: BRN130
MIFTS: 13

Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia

Aliases & Classifications for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

MalaCards integrated aliases for Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia:

Name: Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
branchial myoclonus with spastic paraparesis and cerebellar ataxia:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


External Ids:

OMIM 57 113610
MedGen 42 C1862071

Summaries for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

MalaCards based summary : Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia is related to ataxia and polyneuropathy, adult-onset and aceruloplasminemia. Affiliated tissues include spinal cord, cortex and pons, and related phenotypes are nystagmus and cerebral cortical atrophy

More information from OMIM: 113610

Related Diseases for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Diseases related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.4
2 aceruloplasminemia 10.4
3 spinocerebellar ataxia 20 10.4
4 spastic paraparesis 10.4
5 myoclonus 10.4

Graphical network of the top 20 diseases related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia:



Diseases related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia

Symptoms & Phenotypes for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Human phenotypes related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cerebral cortical atrophy 32 HP:0002120
3 truncal ataxia 32 HP:0002078
4 spastic paraparesis 32 HP:0002313
5 atrophy of the spinal cord 32 HP:0006827
6 palatal myoclonus 32 HP:0010530

Symptoms via clinical synopsis from OMIM:

57
Neuro:
nystagmus
truncal ataxia
spastic paraparesis
rhythmic myoclonus of palate, pharynx, larynx, and face

Radiology:
ct and mri show mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord, with normal pons and olives

Misc:
onset age 40 to 50 years
death or severe disability 5 to 10 years after onset

Clinical features from OMIM:

113610

Drugs & Therapeutics for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Search Clinical Trials , NIH Clinical Center for Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia

Genetic Tests for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Anatomical Context for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

MalaCards organs/tissues related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia:

41
Spinal Cord, Cortex, Pons

Publications for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Articles related to Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia:

# Title Authors PMID Year
1
Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. 38 8
3352913 1988
2
A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. 8
8410038 1993
3
Skeletal myoclonus in olivopontocerebellar atrophy: treatment with trihexyphenidyl. 8
3474546 1987
4
Syndrome of palatal myoclonus and progressive ataxia: report of a case. 8
3762954 1986
5
Syndrome of palatal myoclonus and progressive ataxia: two cases with magnetic resonance imaging. 8
4022358 1985

Variations for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Expression for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Search GEO for disease gene expression data for Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia.

Pathways for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

GO Terms for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

Sources for Branchial Myoclonus with Spastic Paraparesis and Cerebellar...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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