fazema

Fazema is a rare neurological disorder characterized by a progressive loss of muscle tone, leading to a flaccid paralysis. It is also known as infantile cerebral palsy or infantile muscular dystrophy. The condition typically affects infants and young children, with symptoms usually appearing between the ages of 6 months and 2 years. Fazema is caused by a mutation in the GAA gene, which is responsible for producing the enzyme alpha-L-iduronidase. This enzyme is crucial for breaking down a type of sugar called iduronate, which is found in the brain and spinal cord. When the enzyme is defective, iduronate accumulates, leading to the progressive loss of muscle tone and other neurological symptoms.

The symptoms of fazema can vary, but they often include poor muscle tone, difficulty with movement and coordination, and a characteristic "mask-like" face due to the inability to raise the eyebrows. In severe cases, affected individuals may also experience intellectual disability and seizures. Fazema is a progressive disorder, meaning that symptoms worsen over time. There is currently no cure for fazema, but treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and the use of assistive devices to help with mobility and daily activities. Early diagnosis and intervention can improve outcomes and quality of life for individuals with fazema.