MPXPS
MCID: MYP086
MIFTS: 37

Myopathy with Extrapyramidal Signs (MPXPS)

Categories: Eye diseases, Genetic diseases, Muscle 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 56 12 52 73 29 6 15 71
Proximal Myopathy with Extrapyramidal Signs 12 52 58
Mpxps 56 12 73
Myopathy, with Extrapyramidal Signs 39

Characteristics:

Orphanet epidemiological data:

58
proximal myopathy with extrapyramidal signs
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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: 58  
Rare neurological diseases


Summaries for Myopathy with Extrapyramidal Signs

NIH Rare Diseases : 52 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, also known as proximal myopathy with extrapyramidal signs, is related to myopathy and muscular dystrophy, limb-girdle, autosomal recessive 1, and has symptoms including tremor and involuntary movements. An important gene associated with Myopathy with Extrapyramidal Signs is MICU1 (Mitochondrial Calcium Uptake 1), and among its related pathways/superpathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are global developmental delay and central core regions in muscle fibers

Disease Ontology : 12 A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has material basis in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1.

OMIM : 56 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 : 73 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

Diseases related to Myopathy with Extrapyramidal Signs via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 myopathy 10.2
2 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
3 abnormal hair, joint laxity, and developmental delay 10.0
4 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
5 muscular dystrophy 10.0
6 limb-girdle muscular dystrophy 10.0
7 dysferlinopathy 10.0
8 mitochondrial disorders 10.0
9 polymicrogyria 10.0
10 encephalopathy 10.0
11 qualitative or quantitative defects of dysferlin 10.0
12 cataract 3, multiple types 8.4 RHOT1 MICU2 MICU1 MCU

Graphical network of the top 20 diseases related to Myopathy with Extrapyramidal Signs:



Diseases related to Myopathy with Extrapyramidal Signs

Symptoms & Phenotypes for Myopathy with Extrapyramidal Signs

Human phenotypes related to Myopathy with Extrapyramidal Signs:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 central core regions in muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0030230
3 dystonia 58 31 very rare (1%) Frequent (79-30%) HP:0001332
4 chorea 58 31 very rare (1%) Frequent (79-30%) HP:0002072
5 proximal muscle weakness 58 31 very rare (1%) Frequent (79-30%) HP:0003701
6 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
7 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
8 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
9 orofacial dyskinesia 58 31 very rare (1%) Frequent (79-30%) HP:0002310
10 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
11 progressive extrapyramidal movement disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007153
12 resting tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002322
13 progressive extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007158
14 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
17 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
18 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
20 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
21 mildly elevated creatine kinase 31 occasional (7.5%) HP:0008180
22 tremor 31 very rare (1%) HP:0001337
23 specific learning disability 31 very rare (1%) HP:0001328
24 abnormality of extrapyramidal motor function 31 very rare (1%) HP:0002071
25 hearing impairment 58 Excluded (0%)
26 elevated serum creatine kinase 31 HP:0003236
27 motor delay 31 HP:0001270
28 involuntary movements 58 Frequent (79-30%)
29 cardiomyopathy 58 Excluded (0%)
30 mildly elevated creatine phosphokinase 58 Occasional (29-5%)
31 insulin-resistant diabetes mellitus 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
involuntary movements
dystonia
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
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

GenomeRNAi Phenotypes related to Myopathy with Extrapyramidal Signs according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.8 RHOT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 MICU2 RHOT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.8 MICU2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.8 MICU2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.8 MICU2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.8 MICU2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.8 RHOT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.8 RHOT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.8 MICU2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.8 MICU2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.8 MICU2 RHOT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.8 MICU2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.8 MICU2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.5 RHOT1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.5 RHOT1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.5 MICU2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.5 RHOT1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 RHOT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.5 MICU2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 9.5 RHOT1

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:

40
Eye, Skeletal Muscle, Brain

Publications for Myopathy with Extrapyramidal Signs

Articles related to Myopathy with Extrapyramidal Signs:

# Title Authors PMID Year
1
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. 56 6
24336167 2014
2
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. 56
29721912 2019
3
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. 61
32395406 2020
4
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report. 61
32293312 2020

Variations for Myopathy with Extrapyramidal Signs

ClinVar genetic disease variations for Myopathy with Extrapyramidal Signs:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MICU1 NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)SNV Pathogenic 431145 rs1135401814 10:74183021-74183021 10:72423263-72423263
2 MICU1 NM_001195518.2(MICU1):c.40del (p.Ala14fs)deletion Pathogenic 431146 rs749124658 10:74326512-74326512 10:72566754-72566754
3 MICU1 MICU1, EX9-10DUPduplication Pathogenic 916533
4 MICU1 NM_001195518.2(MICU1):c.1072-1G>CSNV Pathogenic 101045 rs754639936 10:74167796-74167796 10:72408038-72408038
5 MICU1 NM_001195518.2(MICU1):c.735+1G>ASNV Pathogenic 101046 rs369915689 10:74236931-74236931 10:72477173-72477173
6 MICU1 NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)SNV Pathogenic 265243 rs777327250 10:74268018-74268018 10:72508260-72508260

Expression for Myopathy with Extrapyramidal Signs

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

Pathways for Myopathy with Extrapyramidal Signs

Pathways related to Myopathy with Extrapyramidal Signs according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.73 MICU1 MCU

GO Terms for Myopathy with Extrapyramidal Signs

Cellular components related to Myopathy with Extrapyramidal Signs according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 RHOT1 MICU2 MICU1 MCU GUF1
2 mitochondrial inner membrane GO:0005743 9.46 MICU2 MICU1 MCU GUF1
3 mitochondrial intermembrane space GO:0005758 9.32 MICU2 MICU1
4 calcium channel complex GO:0034704 9.13 MICU2 MICU1 MCU
5 uniplex complex GO:1990246 8.8 MICU2 MICU1 MCU

Biological processes related to Myopathy with Extrapyramidal Signs according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial calcium ion transmembrane transport GO:0006851 9.43 MICU2 MICU1 MCU
2 mitochondrial calcium ion homeostasis GO:0051560 9.33 MICU2 MICU1 MCU
3 calcium ion transport GO:0006816 9.32 MICU1 MCU
4 positive regulation of mitochondrial calcium ion concentration GO:0051561 9.13 MICU2 MICU1 MCU
5 calcium import into the mitochondrion GO:0036444 8.8 MICU2 MICU1 MCU

Molecular functions related to Myopathy with Extrapyramidal Signs according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 RHOT1 MICU2 MICU1

Sources for Myopathy with Extrapyramidal Signs

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
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