Familial amyotrophic lateral sclerosis (FALS) is a rare and devastating genetic disorder that affects the motor neurons in the brain and spinal cord. It is classified as a subtype of amyotrophic lateral sclerosis (ALS) that follows an inherited pattern of transmission within families.
Familial ALS is characterized by the progressive degeneration and loss of motor neurons, leading to muscle weakness, twitching, and ultimately paralysis. The disease primarily affects the voluntary muscles responsible for movement, such as those involved in walking, speaking, swallowing, and breathing. As the condition progresses, individuals with FALS may experience difficulties with coordination, mobility, breathing, and other aspects of bodily function.
The genetic mutation responsible for FALS is inherited from one or both parents and can be passed down through multiple generations. Although several genes have been associated with FALS, the most common genetic abnormality found in affected individuals is mutations in the superoxide dismutase 1 (SOD1) gene. However, there are other known genes that can be implicated in FALS, such as C9orf72, TARDBP, FUS, and others.
Diagnosis of familial ALS often involves a comprehensive evaluation of the patient's medical and family history, physical examination, neurological tests, and genetic testing. Unfortunately, there is currently no cure for FALS, and the treatments available mainly focus on managing symptoms and optimizing the quality of life for affected individuals.
Due to its inherited nature, familial ALS poses further challenges for individuals and their families, as they may face the risk of passing the genetic mutation to future generations. Genetic counseling services are often recommended for affected families to provide information, support, and guidance regarding family planning options and the potential risks of passing on the disease.
