Azorean Diseases Machado Joseph (ADMJ), also known as Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3), is a hereditary neurodegenerative disorder that affects the central nervous system. It is a rare genetic disorder that primarily affects the brain and spinal cord, leading to a progressive degeneration of certain regions of the nervous system.
ADMJ is caused by a mutation in the ATXN3 gene, which is responsible for producing a protein called ataxin-3. The mutation results in an abnormal expansion of repeated nucleotides within the gene, leading to the production of a toxic form of ataxin-3. This toxic protein accumulates in certain areas of the brain, causing damage and disrupting normal cellular processes.
The main symptoms of ADMJ include progressive ataxia (loss of coordination and balance), muscle rigidity, difficulty speaking and swallowing, tremors, and uncontrolled movements. As the disease progresses, individuals may also experience muscle wasting, weakness, and difficulty with fine motor skills. Cognitive impairment, mood changes, and dementia can also occur in some cases.
ADMJ typically begins in adulthood, usually between the ages of 30 and 40, and its progression varies among affected individuals. There is currently no cure for ADMJ, and the treatment options mainly involve managing and alleviating the symptoms. Physical and occupational therapy, as well as speech therapy, can help individuals maintain functional independence and improve quality of life. Research efforts are ongoing to develop potential disease-modifying treatments that could slow or halt the progression of ADMJ.
