MPXPS
MCID: MYP086
MIFTS: 24

Myopathy with Extrapyramidal Signs (MPXPS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare 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 skeletal muscle, and related phenotypes are ptosis and ataxia

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 chorea 59 32 very rare (1%) Frequent (79-30%) HP:0002072
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
7 dystonia 59 32 very rare (1%) Frequent (79-30%) HP:0001332
8 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
9 proximal muscle weakness 59 32 very rare (1%) Frequent (79-30%) HP:0003701
10 abnormal basal ganglia mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012751
11 mildly elevated creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0008180
12 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
13 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
14 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
15 centrally nucleated skeletal muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003687
16 peripheral axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003477
17 progressive extrapyramidal movement disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007153
18 orofacial dyskinesia 59 32 very rare (1%) Frequent (79-30%) HP:0002310
19 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
20 progressive extrapyramidal muscular rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0007158
21 central core regions in muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0030230
22 tremor 32 very rare (1%) HP:0001337
23 hearing impairment 59 Excluded (0%)
24 elevated serum creatine phosphokinase 32 HP:0003236
25 specific learning disability 32 very rare (1%) HP:0001328
26 cardiomyopathy 59 Excluded (0%)
27 motor delay 32 HP:0001270
28 abnormality of extrapyramidal motor function 32 very rare (1%) HP:0002071
29 involuntary movements 59 Frequent (79-30%)
30 insulin-resistant diabetes mellitus 59 Excluded (0%)

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, Skeletal Muscle

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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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