Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

proximal myopathy with extrapyramidal signs (MPXPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal myopathy with extrapyramidal signs

MONDO:0014300

Also known as:MPXPSmyopathy with extrapyramidal signs

Overview

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

GeneticsAutosomal recessive · MICU1 (chr 10)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Epicanthus, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Hypertelorism, and Specific learning disability and others; and common findings: Dystonia, Seizure, Low muscle tone (hypotonia), and Muscle spasm and others. 63 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Peripheral axonal neuropathy, Dystonia, Seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MICU1 encodes mitochondrial calcium uptake 1 (476 aa). Calcium sensor of the mitochondrial calcium uniporter (MCU) channel, which senses calcium level via its EF-hand domains. Highest expression in Brain Cerebellar Hemisphere (140.6 TPM) and Brain Cerebellum (123.9 TPM).

Proximal myopathy with extrapyramidal signs is associated with mutations in the MICU1 gene on chromosome 10.

The MICU1 protein participates in MCU translocates calcium from the mitochondrial intermembrane space to the mitochondrial matrix, AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU, and Processing of SMDT1 pathways.

MICU1 is classified as a druggable target (Transporter category) with score 26.1.

Diagnosis

Genetic testing for MICU1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 22 always present features, 21 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for proximal myopathy with extrapyramidal signs.

4 publications have been identified in PubMed for proximal myopathy with extrapyramidal signs. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Beheshti P (2026). [PMID: 40898676](https://pubmed.ncbi.nlm.nih.gov/40898676/). *Clin Genet*. [Case Report / Case Series]
Li J (2025). [PMID: 41018190](https://pubmed.ncbi.nlm.nih.gov/41018190/). *Front Neurol*. [Case Report / Case Series]
Baskar D (2024). [PMID: 39973469](https://pubmed.ncbi.nlm.nih.gov/39973469/). *J Neuromuscul Dis*. [Case Report / Case Series]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615673

Orphanet

European rare disease database

Orphanet:401768

GARD

Genetic and Rare Diseases Info Center

GARD:12978

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

proximal myopathy with extrapyramidal signs

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features