Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Foot dorsiflexor weakness; and very common findings: Hyporeflexia. 15 total HPO annotations.

FHL1 encodes four and a half LIM domains 1 (323 aa). May have an involvement in muscle development or hypertrophy Highest expression in Muscle Skeletal (2,025 TPM) and Artery Tibial (1,151 TPM).

X-linked scapuloperoneal muscular dystrophy is associated with mutations in the FHL1 gene on chromosome X.

The FHL1 protein participates in Complement cascade pathway.

FHL1 is classified as a druggable target with score 17.4.

Genetic testing for FHL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for X-linked scapuloperoneal muscular dystrophy has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature.

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

No clinical trials have been registered for X-linked scapuloperoneal muscular dystrophy.

3 publications have been identified in PubMed for X-linked scapuloperoneal muscular dystrophy. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

• Finch M (2025). [PMID: 40388931](https://pubmed.ncbi.nlm.nih.gov/40388931/). *Journal of child neurology*. [Case Report / Case Series]

• Nagaraj CB (2025). [PMID: 40009419](https://pubmed.ncbi.nlm.nih.gov/40009419/). *Journal of clinical neuromuscular disease*. [Diagnostic / Biomarker]

• Caputo M (2024). [PMID: 40017287](https://pubmed.ncbi.nlm.nih.gov/40017287/). *Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology*. [Review / Meta-Analysis]