Machado Joseph Disease Type III, also known as MJD Type III or Spinocerebellar Ataxia Type 3 (SCA3), is a rare genetic neurological disorder that affects the movement and coordination of the body. This condition is classified as one of the spinocerebellar ataxias, a group of progressive disorders characterized by uncoordinated and jerky movements.
Machado Joseph Disease Type III is caused by a mutation in the ATXN3 gene. The gene mutation leads to an abnormal buildup of a protein called ataxin-3, primarily in the brain and spinal cord. This buildup disrupts the normal functioning of nerve cells, leading to the neurodegenerative symptoms associated with the disease.
Symptoms of Machado Joseph Disease Type III typically appear in adulthood, usually between the ages of 40 and 70. The primary signs include impaired coordination and balance, as well as difficulty walking, speaking, and swallowing. Individuals with this condition may also experience muscle stiffness and weakness, involuntary movements (such as twitches or tremors), and problems with eye movement and vision.
Machado Joseph Disease Type III is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disease. Genetic testing can be performed to confirm a diagnosis.
While there is currently no cure for Machado Joseph Disease Type III, treatment focuses on managing symptoms and improving quality of life. This may involve physical therapy to address movement difficulties, medications to alleviate specific symptoms, and speech therapy for communication impairments. Additionally, emotional and psychological support is important for affected individuals and their families.
