congenital structural myopathy

Congenital structural myopathy, also known as centronuclear myopathy, is a group of genetic muscle disorders characterized by low muscle tone, muscle weakness, and delays in the development of motor skills. The condition is linked to pathogenic variants in the DNM2 gene, which plays an important role in muscle cell function and membrane dynamics. It typically presents in infancy, although the exact age of onset and severity of symptoms can vary considerably. Precise prevalence estimates are not well established, reflecting the rarity of this condition.

Individuals with congenital structural myopathy commonly present with hypotonia and muscle weakness, which can contribute to delays in reaching motor milestones such as sitting, crawling, or walking. The clinical presentation may evolve over time, with some patients experiencing persistent difficulties with muscle strength and coordination. Not all affected individuals experience all features, and severity varies considerably.

The underlying cause of congenital structural myopathy is associated with pathogenic variants in the DNM2 gene. DNM2 encodes a protein critical for membrane trafficking and cellular organization in muscle cells, and disruptions in its function can lead to the structural muscle abnormalities observed in this condition. While specific details regarding the inheritance pattern are not available, genetic factors play a central role in its development. Families are encouraged to seek genetic counseling to discuss potential implications and family planning.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically linked to congenital structural myopathy. Treatment is tailored to each individual and usually involves a multidisciplinary team that may include physical and occupational therapists to help improve mobility and function. Patients and families are encouraged to consult their healthcare team to determine the most appropriate therapies, and genetic counseling is recommended to help understand treatment options and implications for future family planning.

The course of congenital structural myopathy varies widely among affected individuals. With current standards of care, many individuals continue to make functional gains and achieve varying levels of independence, although challenges with muscle strength and mobility may persist. Outcomes described in medical literature continue to evolve as standards of care improve, and the long-term trajectory depends on factors such as symptom severity, age at diagnosis, and access to specialized therapies. Families often find it helpful to connect with genetic counselors and specialized care teams for ongoing support and guidance.

Active research in congenital structural myopathy is underway, with several clinical trials currently investigating new treatment approaches. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and potential participation opportunities.