Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Muscle fiber intracytoplasmic reducing inclusion bodies, Loss of ambulation, and Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness) and others; and common findings: Poor head control, Sideways curvature of the spine (scoliosis), Respiratory failure, and Spinal rigidity. 13 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).

Myopathy, reducing body, X-linked, early-onset, severe 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 myopathy, reducing body, X-linked, early-onset, severe has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 4 common features.

No clinical trials have been registered for myopathy, reducing body, X-linked, early-onset, severe.

120 publications have been identified in PubMed for myopathy, reducing body, X-linked, early-onset, severe. Research spans Epidemiology / Natural History (43%), Review / Meta-Analysis (23%), and Case Report / Case Series (12%).