- How the treatment is done
- How are physiotherapy sessions done
- Who can have the disease
- How the diagnosis is made
Machado-Joseph disease is a rare genetic disease that causes continuous degeneration of the nervous system, causing loss of muscle control and coordination, especially in the arms and legs.
Generally, this disease appears after 30 years of age, settling in progressively, first affecting the muscles of the legs and arms and progressing over time to the muscles responsible for speech, swallowing and even eye movement.
Machado-Joseph's disease cannot be cured, but it can be controlled with the use of drugs and physiotherapy sessions, which help to relieve symptoms and allow independent performance of daily activities.
How the treatment is done
Treatment for Machado-Joseph disease should be guided by a neurologist and usually aims to reduce the limitations that arise with the progression of the disease.
Thus, treatment can be done with:
- Ingestion of Parkinson's remedies, such as Levodopa: help to reduce stiffness of movements and tremors; Use of antispasmodic remedies, such as Baclofen: prevent the appearance of muscle spasms, improving movement; Use of glasses or correction lenses: reduce the difficulty in seeing and the appearance of double vision; Changes in food: treat problems related to difficulty swallowing, through changes in the texture of food, for example.
In addition, the doctor may also recommend doing physical therapy sessions to help the patient overcome his physical limitations and lead an independent life in carrying out daily activities.
How are physiotherapy sessions done
Physical therapy for Machado-Joseph disease is done with regular exercises to help the patient overcome the limitations caused by the disease. Therefore, during physical therapy sessions, various activities can be used, from doing exercises to maintain the amplitude of the joints, to learning to use crutches or wheelchairs, for example.
In addition, physiotherapy may also include swallowing rehabilitation therapy that is recommended and essential for all patients with difficulty swallowing food, which is related to neurological damage caused by the disease.
Who can have the disease
Machado-Joseph disease is caused by a genetic alteration that results in the production of a protein, known as Ataxin-3, which accumulates in brain cells causing the development of progressive lesions and the appearance of symptoms.
As a genetic problem, Machado-Joseph disease is common in several people in the same family, with a 50% chance of passing from parents to children. When this happens, children can develop the first signs of the disease earlier than their parents.
How the diagnosis is made
In most cases, Machado-Joseph disease is identified by observing the symptoms by the neurologist and investigating the family history of the disease.
In addition, there is a blood test, known as SCA3, which allows you to identify the genetic alteration that causes the disease. That way, when you have someone in the family with this disease, and you are tested, it is possible to find out what the risk of developing the disease is.
