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Rare Diseases 2023

Doença by Machado Joseph: what é, symptoms and treatment

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Doença by Machado Joseph: what é, symptoms and treatment
Doença by Machado Joseph: what é, symptoms and treatment

Machado-Joseph disease, also called spinocerebellar ataxia type 3, is a rare genetic disease that causes continuous degeneration of the nervous system, causing loss of muscle and motor control and coordination, especially in the arms and legs.

Usually, this disease appears after the age of 30, installing progressively, first affecting the muscles of the legs and arms and, over time, progressing to the muscles responsible for speech, swallowing and even by eye movement.

Machado-Joseph disease has no cure, but it can be controlled through a multidisciplinary treatment, which involves the participation of a neurologist, physical therapist, speech therapist and psychologist, helping to relieve symptoms and allowing the person to carry out day-to-day activities independently.

Main symptoms

The symptoms of Machado-Joseph disease are progressive, usually appear after the age of 30 and occur due to the involvement of the cerebellum, mainly the brainstem, spinal cord and peripheral nerves, the main ones being:

  • Loss of motor coordination;
  • Difficulty walking due to loss of leg movement;
  • Difficulty standing;
  • Leg spasms;
  • Difficulty speaking and swallowing;
  • Loss of balance;
  • Difficulty holding objects due to loss of upper limb movement;
  • Difficulty moving eyes, possibly double vision.

In the presence of signs and symptoms of Machado-Joseph disease, especially if there is a case in the family of this disease, it is important that the neurologist is consulted, as it is possible for the symptoms to be evaluated and tests to be carried out to allow a diagnosis this disease.

Thus, to confirm Machado-Joseph disease, the doctor may recommend performing a genetic test to check for the genetic alteration characteristic of this disease, which is known as ATXN3. In addition, neurological and imaging tests, such as magnetic resonance imaging, may be performed to assess the brain.

Cause of Machado-Joseph 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 onset of symptoms.

Because it is 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 may develop the first signs of the disease earlier than their parents.

How the treatment is done

Treatment for Machado-Joseph disease must be performed by a multidisciplinary team, which is usually composed of a neurologist, speech therapist, physical therapist and psychologist. In this way, it is possible to reduce the limitations that arise as the disease progresses. In general, the treatment can be done through:

  • Use of Parkinson's Medicines, such as Levodopa: help reduce rigidity of movement and tremors;
  • Use of antispasmodic drugs, such as Baclofen: prevent the onset of muscle spasms, improving movement;
  • Using corrective glasses or lenses: reduces difficulty in seeing and the appearance of double vision;
  • Food changes: address problems related to difficulty swallowing, through changes in food texture, for example.

In addition, the doctor may also recommend physical therapy and speech therapy sessions to help the patient overcome their physical limitations and lead an independent life in carrying out daily activities.

How physiotherapy sessions are performed

Physiotherapy for Machado-Joseph disease is done with regular exercises to help the patient overcome the limitations caused by the disease. Therefore, during physiotherapy sessions, various activities can be used, from doing exercises to maintain joint amplitude, to learning to use crutches or a wheelchair, for example.

Furthermore, physiotherapy may also include swallowing rehabilitation therapy which is recommended and essential for all patients with difficulty swallowing food, which is related to the neurological damage caused by the disease.

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