proximal myopathy with extrapyramidal signs
Findings
No curated finding names proximal myopathy with extrapyramidal signs yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014300), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cerebellar dysplasiaHPOHP:0007033
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
- Delayed speech and language developmentHPO
Show the remaining 51
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- HyperlysinemiaHPOHP:0002161
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypervalinemiaHPOHP:0010910
- 1 of 1 reported patient
- Hypoplastic anterior limbs of the internal capsuleHPOHP:0034051
- 1 of 1 reported patient
- Increased CSF protein concentrationHPOHP:0002922
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MICU1HGNC:1530
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021