Get to know SCA3

What is Spinocerebellar Ataxia Type 3 / Machado-Joseph Disease (SCA3/MJD)?

Patient DZNE

Spinocerebellar ataxia type 3 (SCA3) is a rare genetic disorder that affects the cerebellum, which is the part of the brain responsible for coordination and balance. Peripheral nerves, the vestibular organs, the spinal cord, brainstem and basal ganglia are also often involved. It is a progressive disorder, which means that symptoms will gradually worsen over time.

The symptoms of SCA3 can vary widely, but they typically include problems with balance, coordination, and muscle control. This can lead to difficulty in walking and fine motor tasks (such as buttoning clothes or writing), and slurred speech. Other common symptoms include difficulty in swallowing, sensory disturbances, and double vision. Some patients have Parkinson symptoms.

SCA3 is caused by a genetic mutation that leads to the production of an abnormally elongated toxic protein called ataxin-3. This protein accumulates in neurons causing them to malfunction and eventually die. As a result, the cerebellum, brainstem and spinal cord becomes smaller, which leads to the symptoms of SCA3.

Currently, there is no cure for SCA3, and there are no treatments that can stop or reverse the progression of the disease. However, there are a number of treatment options available that can help manage the symptoms of SCA3. These include physical therapy to help improve balance and coordination, occupational therapy to help with activities of daily living, and speech therapy to help with speaking and swallowing. Medications can also be used to help with specific symptoms, such as Parkinson symptoms.

It's important to know that SCA3 is a rare disease, and it affects people differently. Some people may have a mild form of the disease and live a normal life span, while others may have a more severe form and require more assistance and care. Research is ongoing to find better treatments and potential cure for SCA3, and it is important for patients to stay informed about the latest developments in SCA3 research and treatment.