MPXPS
MCID: MYP086
MIFTS: 23

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 58 54 76 30 6 74
Proximal Myopathy with Extrapyramidal Signs 54 60
Mpxps 58 76
Myopathy, with Extrapyramidal Signs 41

Characteristics:

Orphanet epidemiological data:

60
proximal myopathy with extrapyramidal signs
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
myopathy with extrapyramidal signs:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Myopathy with Extrapyramidal Signs

NIH Rare Diseases : 54 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 chorea and global developmental delay

OMIM : 58 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 : 76 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

Human phenotypes related to Myopathy with Extrapyramidal Signs:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 60 33 very rare (1%) Frequent (79-30%) HP:0002072
2 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
3 dystonia 60 33 very rare (1%) Frequent (79-30%) HP:0001332
4 central core regions in muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0030230
5 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
6 proximal muscle weakness 60 33 very rare (1%) Frequent (79-30%) HP:0003701
7 abnormal basal ganglia mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012751
8 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
9 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046
10 centrally nucleated skeletal muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003687
11 progressive extrapyramidal movement disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007153
12 orofacial dyskinesia 60 33 very rare (1%) Frequent (79-30%) HP:0002310
13 resting tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322
14 progressive extrapyramidal muscular rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0007158
15 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
16 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
17 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
18 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
19 ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000602
20 peripheral axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003477
21 mildly elevated creatine kinase 33 occasional (7.5%) HP:0008180
22 tremor 33 very rare (1%) HP:0001337
23 specific learning disability 33 very rare (1%) HP:0001328
24 abnormality of extrapyramidal motor function 33 very rare (1%) HP:0002071
25 hearing impairment 60 Excluded (0%)
26 cardiomyopathy 60 Excluded (0%)
27 motor delay 33 HP:0001270
28 involuntary movements 60 Frequent (79-30%)
29 mildly elevated creatine phosphokinase 60 Occasional (29-5%)
30 insulin-resistant diabetes mellitus 60 Excluded (0%)
31 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MICU1

Anatomical Context for Myopathy with Extrapyramidal Signs

MalaCards organs/tissues related to Myopathy with Extrapyramidal Signs:

42
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.40del (p.Ala14Leufs) deletion Pathogenic rs749124658 GRCh38 Chromosome 10, 72566754: 72566754
8 MICU1 NM_006077.3(MICU1): c.40del (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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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