Scapuloperoneal Muscular Dystrophies (SPMD) refers to a group of genetic disorders characterized by the progressive wasting and weakness of certain muscles in the body, particularly those around the shoulder blades (scapula) and legs (peroneal). SPMD falls within the broader category of muscular dystrophies, which are a heterogeneous group of conditions characterized by the degeneration and weakening of muscles over time.
This specific subtype, scapuloperoneal muscular dystrophy, is inherited in an autosomal dominant or autosomal recessive pattern, meaning it can be passed down from one generation to the next. It typically manifests during adolescence or early adulthood, but in some cases, symptoms may appear earlier or later in life.
Individuals with SPMD often experience weakness and wasting of the muscles in the shoulder girdles, leading to scapular winging (the shoulder blades protrude outward), and the muscles around the lower legs, leading to foot deformities and difficulty walking. Some affected individuals may also exhibit involvement of other muscle groups, such as the upper arms or thighs.
SPMD is caused by specific genetic mutations that result in abnormal protein production or function, ultimately leading to the gradual deterioration of muscles. There is currently no cure for this condition, and treatment mainly focuses on managing symptoms and improving quality of life through physical therapy, assistive devices (such as leg braces or orthotics), and pharmacological interventions to alleviate muscle pain or stiffness.
Continued research and advancements in gene therapy and molecular treatments hold promise for potential future treatments for scapuloperoneal muscular dystrophies.
