MCID: BRN130
MIFTS: 14

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
branchial myoclonus with spastic paraparesis and cerebellar ataxia:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


External Ids:

OMIM 56 113610
MedGen 41 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 cerebral cortical atrophy 31 HP:0002120
3 truncal ataxia 31 HP:0002078
4 spastic paraparesis 31 HP:0002313
5 atrophy of the spinal cord 31 HP:0006827
6 palatal myoclonus 31 HP:0010530

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61 56
3352913 1988
2
A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. 56
8410038 1993
3
Skeletal myoclonus in olivopontocerebellar atrophy: treatment with trihexyphenidyl. 56
3474546 1987
4
Syndrome of palatal myoclonus and progressive ataxia: report of a case. 56
3762954 1986
5
Syndrome of palatal myoclonus and progressive ataxia: two cases with magnetic resonance imaging. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....