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Features include: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Myopathy, Thickened heart muscle (hypertrophic cardiomyopathy), and Global developmental delay and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 2 | Myopathy, Neonatal hypotonia |
No clinical trials have been registered for myopathy, autophagic vacuolar, infantile-onset.
25 publications have been identified in PubMed for myopathy, autophagic vacuolar, infantile-onset. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 44% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:42 PM UTC
Online Mendelian Inheritance in Man
Lab test results
1 |
Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Heart and blood vessels | 1 | Thickened heart muscle (hypertrophic cardiomyopathy) |
Brain and nerves | 1 | Global developmental delay |
Pregnancy and birth | 1 | Neonatal hypotonia |
Research summaries
5 |
20% |
Laboratory research | 5 | 20% |
New treatment approaches | 3 | 12% |
Clinical study results | 1 | 4% |
Haschke AM (2026). [PMID: 42087238](https://pubmed.ncbi.nlm.nih.gov/42087238/). *Acta Neuropathol Commun*. [Case Report / Case Series]
Chang HE (2026). [PMID: 40369127](https://pubmed.ncbi.nlm.nih.gov/40369127/). *Pediatr Nephrol*. [Review / Meta-Analysis]
Sarparanta J (2026). [PMID: 41294008](https://pubmed.ncbi.nlm.nih.gov/41294008/). *Hum Mol Genet*. [Case Report / Case Series]
Carnazzi A (2026). [PMID: 41624901](https://pubmed.ncbi.nlm.nih.gov/41624901/). *Genes Dis*. [Gene Therapy / Novel Therapeutics]
Lejars M (2026). [PMID: 41713383](https://pubmed.ncbi.nlm.nih.gov/41713383/). *Stem Cell Res*. [Basic Science / Preclinical]
Merlet AN (2026). [PMID: 41307411](https://pubmed.ncbi.nlm.nih.gov/41307411/). *J Neuropathol Exp Neurol*. [Basic Science / Preclinical]
Jones FJS (2026). [PMID: 41787240](https://pubmed.ncbi.nlm.nih.gov/41787240/). *Eur J Neurol*. [Case Report / Case Series]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Case Report / Case Series]
Xia X (2026). [PMID: 41699400](https://pubmed.ncbi.nlm.nih.gov/41699400/). *J Hum Genet*. [Basic Science / Preclinical]
Sluyts Y (2025). [PMID: 40706449](https://pubmed.ncbi.nlm.nih.gov/40706449/). *Neuromuscul Disord*. [Case Report / Case Series]