Machado-Joseph disease is a form of inherited ataxia, a disorder where people have difficulty controlling muscle movements. It is rare, and patients with this condition may need a referral to an expert to receive appropriate diagnosis and treatment. Those who specialize in the treatment of this genetic disorder may have access to the most recent research in terms of therapies and disease management, and can help patients may informed choices about their health care.
In patients with this condition, cells responsible for regulating movement start to degenerate, causing a progressive ataxia. This might start with symptoms like mild tremors and poor coordination. As the patient's condition worsens, issues like contractures, where muscles tighten and do not release, can develop. Difficulty walking is common as is poor muscle control over the arms and legs for many basic tasks.
Severe Machado-Joseph disease may cause difficulty with speaking and eating. Some patients also experience vision problems. The level of severity can be quite variable, even within the same family, illustrating the complexity of the genes involved. Some patients may progress rapidly and develop significant impairments, while others may retain independence for longer periods of time. Regular medical assessments can help patients and care providers track the progress of the disease.
Research continues on Machado-Joseph disease, and treatments are available to manage the symptoms. Some patients benefit from medications to limit tremors and relax the muscles. Others may find it helpful to attend physical and occupational therapy sessions. For those who have problems eating, speaking, and breathing, speech-language therapy may be helpful to develop muscle coordination and strength around the jaw.
Ongoing research into Machado-Joseph disease and other forms of ataxia provides important information about their mechanisms of action and the genes involved. This can help researchers develop treatments to help patients manage the condition more effectively. Identification of the genes may also lead to therapies that can target the harmful genetic information directly to control the disease.
Membership in a support group may also help a patient with Machado-Joseph disease. While the rarity of this condition can make it hard to locate other patients who have it, ataxia support groups can provide assistance, as can groups for people with other neurological disorders. Some organizations offer help paying medical expenses as well as opportunities to meet up with patients, exchange information, and attend events arranged for people with ataxia and other movement disorders.