Machado-Joseph disease is a rare genetic disease that causes continuous nervous system degeneration, resulting in loss of muscle control and coordination, especially in the arms and legs.
This disease usually occurs after age 30, settling down gradually, first affecting the muscles of the legs and arms and progressing over time to the muscles in charge of talking, swallowing and even moving the eyes.
- Machado-Joseph disease cannot be cured.
- But can be controlled through the use of medications and physiotherapy sessions.
- Which help relieve symptoms and allow independent performing of daily activities.
Treatment of Machado-Joseph disease should be guided by a neurologist and generally aims to reduce limitations that occur with disease progression.
Thus, treatment can be done with
In addition, your doctor may also recommend physical therapy sessions to help the patient overcome their physical limitations and lead an independent life in performing daily activities.
Physiotherapy for Machado-Joseph disease is performed with regular exercises to help the patient overcome the limitations caused by the disease; for example, during physiotherapy sessions, various activities can be performed, from exercising to maintain joint amplitude to learning how to use crutches. wheelchairs, for example.
In addition, physical therapy may also include a swallowing rehabilitation therapy that is recommended and is essential for all patients with difficulty swallowing food, which is related to neurological damage caused by the disease.
Machado-Joseph disease is caused by a genetic alteration that results in the production of a protein, called Ataxina-3, which accumulates in brain cells causing progressive injury and the onset of symptoms.
As a genetic problem, Machado-Joseph disease is common in several people in the same family, with a 50% chance of moving from parent to child. When this happens, children may develop the first signs of the disease before their parents.
In most cases, Machado-Joseph’s disease is identified by observing symptoms by the neurologist and researching the family history of the disease.
In addition, there is a blood test, called SCA3, that allows you to identify the genetic alteration caused by the disease, in this way, when you have a family member with this disease and you are tested, it is possible to determine the risk of developing the disease.