Management

There are no approved disease-modifying therapies specific to SPEG-related myopathy at this time; management remains supportive and symptomatic.

Multidisciplinary care:Coordinate neuromuscular, cardiology, respiratory, feeding/nutrition, physical/occupational therapy, genetics and palliative support as needed.

Cardiac evaluation and surveillance:Baseline cardiology evaluation at diagnosis (ECG, echocardiogram). Given high risk for cardiomyopathy, repeat cardiac imaging and ECG at frequent intervals (e.g., every 3–6 months during infancy and at least annually thereafter — adjust based on clinical status and local practice). Low threshold for cardiology referral with any signs of cardiac dysfunction. Consider early involvement of heart failure/transplant team for progressive DCM.

Respiratory care:Baseline respiratory assessment (including pulse oximetry, sleep study if concern for nocturnal hypoventilation, pulmonary function testing when feasible). Monitor for hypoventilation and recurrent infections; initiate noninvasive or invasive ventilatory support as indicated. Early referral to pulmonology.

Feeding & nutrition:Assess swallowing; consider feeding support (feeding therapy, NG/G-tube) where necessary; monitor growth and nutrition closely.

Physical therapy / orthopedics:Early physical and occupational therapy to maximize motor function; orthotic management for contractures; orthopedic evaluation as needed.

Genetic counseling:Offer testing and counseling for family planning. Discuss typical inheritance patterns (often autosomal recessive, but counsel based on the specific genotype). Offer parental carrier testing, and cascade testing for at-risk relatives.

Surveillance for complications:Regular monitoring for progression of muscle weakness, respiratory decline, scoliosis and orthopedic complications; adjust surveillance frequency by age/severity.

Supportive care & anticipatory guidance:Provide family support, coordinate palliative care when appropriate, and discuss prognosis tailored to genotype and clinical course.

Research & registries: Encourage enrolment in disease registries and clinical research to improve knowledge and future therapies.