MCID: MYP086
MIFTS: 21

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 57 53 75 29 6 73
Proximal Myopathy with Extrapyramidal Signs 53 59
Mpxps 57 75
Myopathy, with Extrapyramidal Signs 40

Characteristics:

Orphanet epidemiological data:

59
proximal myopathy with extrapyramidal signs
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
myopathy with extrapyramidal signs:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myopathy with Extrapyramidal Signs

NIH Rare Diseases : 53 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.

MalaCards based summary : Myopathy with Extrapyramidal Signs, is also known as proximal myopathy with extrapyramidal signs, and has symptoms including tremor and involuntary movements. An important gene associated with Myopathy with Extrapyramidal Signs is MICU1 (Mitochondrial Calcium Uptake 1). Affiliated tissues include eye, and related phenotypes are microcephaly and ptosis

OMIM : 57 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 : 75 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:

57
Neurologic Central Nervous System:
tremor
chorea
dystonia
involuntary movements
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
difficulty running
muscle weakness, proximal
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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 ptosis 32 occasional (7.5%) HP:0000508
3 ophthalmoplegia 32 occasional (7.5%) HP:0000602
4 optic atrophy 32 occasional (7.5%) HP:0000648
5 ataxia 32 occasional (7.5%) HP:0001251
6 motor delay 32 HP:0001270
7 specific learning disability 32 very rare (1%) HP:0001328
8 dystonia 32 very rare (1%) HP:0001332
9 tremor 32 very rare (1%) HP:0001337
10 abnormality of extrapyramidal motor function 32 very rare (1%) HP:0002071
11 chorea 32 very rare (1%) HP:0002072
12 orofacial dyskinesia 32 very rare (1%) HP:0002310
13 difficulty walking 32 HP:0002355
14 elevated serum creatine phosphokinase 32 HP:0003236
15 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
16 proximal muscle weakness 32 very rare (1%) HP:0003701
17 difficulty running 32 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 29 MICU1

Anatomical Context for Myopathy with Extrapyramidal Signs

MalaCards organs/tissues related to Myopathy with Extrapyramidal Signs:

41
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.1078-1G> C single nucleotide variant Pathogenic rs754639936 GRCh37 Chromosome 10, 74167796: 74167796
3 MICU1 NM_006077.3(MICU1): c.741+1G> A single nucleotide variant Pathogenic rs369915689 GRCh37 Chromosome 10, 74236931: 74236931
4 MICU1 NM_006077.3(MICU1): c.741+1G> A single nucleotide variant Pathogenic rs369915689 GRCh38 Chromosome 10, 72477173: 72477173
5 MICU1 NM_006077.3(MICU1): c.1048C> T (p.Gln350Ter) single nucleotide variant Pathogenic rs1135401814 GRCh38 Chromosome 10, 72423263: 72423263
6 MICU1 NM_006077.3(MICU1): c.1048C> T (p.Gln350Ter) single nucleotide variant Pathogenic rs1135401814 GRCh37 Chromosome 10, 74183021: 74183021
7 MICU1 NM_006077.3(MICU1): c.40delG (p.Ala14Leufs) deletion Pathogenic rs749124658 GRCh38 Chromosome 10, 72566754: 72566754
8 MICU1 NM_006077.3(MICU1): c.40delG (p.Ala14Leufs) deletion Pathogenic rs749124658 GRCh37 Chromosome 10, 74326512: 74326512

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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