lihasdystrofiat

Lihasdystrofiat is a collective term used to describe a group of inherited neuromuscular disorders characterized by progressive degeneration of skeletal muscles, resulting in weakness, reduced mobility, and eventual disability. The term combines the Estonian words lihas (muscle) and düstroofia (dystrophy).

Pathogenesis and genetics: Most forms arise from mutations in genes encoding muscle proteins or their regulators. Inheritance patterns include X-linked, autosomal dominant, and autosomal recessive. The spectrum includes conditions such as Duchenne and Becker muscular dystrophy, limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Molecular testing confirms the subtype and informs prognosis and family planning.

Clinical features and diagnosis: Onset ranges from early childhood to adulthood depending on subtype. Early signs include proximal muscle weakness, difficulty rising from the floor or stairs, and abnormal gait. Calf pseudohypertrophy may occur. Serum creatine kinase is often elevated. Diagnosis combines clinical assessment, genetic testing, and sometimes muscle biopsy, electromyography, and imaging.

Management: There is no cure. Care is multidisciplinary, emphasizing physical therapy, occupational therapy, orthotics, and assistive devices. Respiratory support and cardiac care are important for certain forms. Corticosteroids or other disease-modifying therapies may slow progression in some subtypes; gene therapies and antisense approaches are under development.

Prognosis and research: Disease course varies by subtype; some forms progress rapidly in childhood, others slowly in adulthood. Life expectancy ranges widely. Ongoing research aims to develop gene-based and pharmacological therapies to modify course and improve quality of life.