MCID: MYP086
MIFTS: 20

Myopathy with Extrapyramidal Signs

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myopathy with Extrapyramidal Signs

MalaCards integrated aliases for Myopathy with Extrapyramidal Signs:

Name: Myopathy with Extrapyramidal Signs 53 49 71 28 69
Proximal Myopathy with Extrapyramidal Signs 49 55
Mpxps 53 71

Characteristics:

Orphanet epidemiological data:

55
proximal myopathy with extrapyramidal signs
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (11 months to 8 years)
slowly progressive or static disease course


HPO:

31
myopathy with extrapyramidal signs:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Myopathy with Extrapyramidal Signs

NIH Rare Diseases : 49 Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body’s midline) and learning disabilities. The muscle weakness does not progress, but most patients develop progressive atypical involuntary muscle contractions that influence gait, movement, and posture (extrapyramidal signs) that may be disabling. Signs and symptoms are variable and include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posturing, and involuntary repetitive movements of the mouth and face.  Other symptoms may include uncoordinated movements (ataxia), a very small head (microcephaly), drooping of the eyelids, wasting of the eye nerve (optic atrophy), and axonal peripheral neuropathy. It is caused by changes (mutations) in the MICU1 gene and is inherited in an autosomal recessive  pattern. Last updated: 3/31/2016

MalaCards based summary : Myopathy with Extrapyramidal Signs, is also known as proximal myopathy with extrapyramidal signs, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. An important gene associated with Myopathy with Extrapyramidal Signs is MICU1 (Mitochondrial Calcium Uptake 1). Affiliated tissues include eye.

OMIM : 53 Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). (615673)

UniProtKB/Swiss-Prot : 71 Myopathy with extrapyramidal signs: An autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy.

Related Diseases for Myopathy with Extrapyramidal Signs

Symptoms & Phenotypes for Myopathy with Extrapyramidal Signs

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
dystonia
involuntary movements
chorea
orofacial dyskinesia
more
Head And Neck Eyes:
optic atrophy (in some patients)
ophthalmoplegia (in some patients)
ptosis (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
difficulty walking
muscle weakness, proximal
difficulty running
necrotic fibers
increased fiber size variation seen on biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Peripheral Nervous System:
axonal neuropathy (in some patients)


Clinical features from OMIM:

615673

Human phenotypes related to Myopathy with Extrapyramidal Signs:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 tremor 31 very rare (1%) HP:0001337
3 abnormality of extrapyramidal motor function 31 very rare (1%) HP:0002071
4 dystonia 31 very rare (1%) HP:0001332
5 ophthalmoplegia 31 occasional (7.5%) HP:0000602
6 ptosis 31 occasional (7.5%) HP:0000508
7 chorea 31 very rare (1%) HP:0002072
8 microcephaly 31 occasional (7.5%) HP:0000252
9 optic atrophy 31 occasional (7.5%) HP:0000648
10 elevated serum creatine phosphokinase 31 HP:0003236
11 specific learning disability 31 very rare (1%) HP:0001328
12 difficulty walking 31 HP:0002355
13 motor delay 31 HP:0001270
14 proximal muscle weakness 31 very rare (1%) HP:0003701
15 orofacial dyskinesia 31 very rare (1%) HP:0002310
16 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
17 difficulty running 31 HP:0009046

UMLS symptoms related to Myopathy with Extrapyramidal Signs:


tremor, involuntary movements

Drugs & Therapeutics for Myopathy with Extrapyramidal Signs

Search Clinical Trials , NIH Clinical Center for Myopathy with Extrapyramidal Signs

Genetic Tests for Myopathy with Extrapyramidal Signs

Genetic tests related to Myopathy with Extrapyramidal Signs:

# Genetic test Affiliating Genes
1 Myopathy with Extrapyramidal Signs 28 MICU1

Anatomical Context for Myopathy with Extrapyramidal Signs

MalaCards organs/tissues related to Myopathy with Extrapyramidal Signs:

38
Eye

Publications for Myopathy with Extrapyramidal Signs

Variations for Myopathy with Extrapyramidal Signs

ClinVar genetic disease variations for Myopathy with Extrapyramidal Signs:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MICU1 NM_006077.3(MICU1): c.1078-1G> C single nucleotide variant Pathogenic rs754639936 GRCh38 Chromosome 10, 72408038: 72408038
2 MICU1 NM_006077.3(MICU1): c.741+1G> A single nucleotide variant Pathogenic rs369915689 GRCh37 Chromosome 10, 74236931: 74236931
3 MICU1 NM_006077.3(MICU1): c.1048C> T (p.Gln350Ter) single nucleotide variant Pathogenic rs1135401814 GRCh38 Chromosome 10, 72423263: 72423263
4 MICU1 NM_006077.3(MICU1): c.40delG (p.Ala14Leufs) deletion Pathogenic rs749124658 GRCh38 Chromosome 10, 72566754: 72566754

Expression for Myopathy with Extrapyramidal Signs

Search GEO for disease gene expression data for Myopathy with Extrapyramidal Signs.

Pathways for Myopathy with Extrapyramidal Signs

GO Terms for Myopathy with Extrapyramidal Signs

Sources for Myopathy with Extrapyramidal Signs

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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