Friedreich Hereditary Spinal Ataxia (FHSA) is a rare inherited neurological disorder that affects the coordination and movement of the body. It is named after Nikolaus Friedreich, a German physician who first described the condition in the late 19th century. FHSA is characterized by progressive degeneration of the nervous system, primarily affecting the spinal cord and peripheral nerves.
The most prominent symptom of FHSA is ataxia, which refers to the lack of coordination and balance in voluntary movements. Individuals with FHSA often experience difficulties with walking, hand-eye coordination, and speech. Other common symptoms include muscle weakness, loss of reflexes, and abnormal curvature of the spine (scoliosis). Additionally, individuals may develop heart problems, such as hypertrophic cardiomyopathy, which is the abnormal thickening of the heart muscle.
FHSA is caused by a mutation in the frataxin (FXN) gene, which is responsible for producing a protein involved in mitochondrial function. The mutation leads to a deficiency of frataxin, resulting in impaired energy production and increased oxidative stress within cells. This ultimately leads to the degeneration of nerve cells in the spinal cord and other affected areas.
FHSA is inherited in an autosomal recessive manner, meaning that both copies of the FXN gene must be mutated for an individual to develop the condition. The severity and progression of symptoms can vary widely among affected individuals, making it difficult to predict the course of the disease.
Currently, there is no cure for FHSA. Treatment mainly focuses on managing symptoms, improving quality of life, and preventing complications. Physical therapy, assistive devices, medications, and close monitoring of cardiac function are commonly used approaches in managing the condition. Ongoing research is aimed at developing potential therapies to slow the progression
