Lihasfasciaan

Lihasfasciaan is a rare genetic disorder characterized by the progressive degeneration of the fascia, the connective tissue that supports and stabilizes muscles, bones, and internal organs. The condition is named after the Finnish physician Liisa Hietanen, who first described it in 1999. Lihasfasciaan is caused by mutations in the FAS gene, which encodes for the enzyme fatty acid synthase. This enzyme is crucial for the production of fatty acids, which are essential components of cell membranes and other biological structures.

The primary symptom of lihasfasciaan is the gradual weakening and eventual loss of muscle mass, leading to muscle atrophy and contractures. This degeneration typically begins in the distal muscles, such as those in the hands and feet, and progresses proximally. The condition can also affect the fascia, leading to its degeneration and the development of contractures, which are rigid, fixed joints. Other symptoms may include joint stiffness, limited range of motion, and skin changes such as hyperpigmentation and atrophy.

The diagnosis of lihasfasciaan is typically based on clinical examination and genetic testing. The genetic mutation is present at birth, but the symptoms may not become apparent until later in life. There is no cure for lihasfasciaan, and treatment is primarily supportive. Physical therapy and occupational therapy can help maintain mobility and function. Surgery may be required to correct contractures and manage pain. The prognosis for individuals with lihasfasciaan varies, but many experience a gradual decline in mobility and quality of life over time. Research is ongoing to better understand the underlying mechanisms of the disorder and to develop more effective treatments.