Machado-Joseph Disease: Symptoms and Treatment

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Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, or SCA3, is an inherited ataxia disorder. Ataxia can affect muscle control, resulting in a lack of balance and coordination. Specifically, MJD causes a progressive lack of coordination in the arms and legs. People with the condition tend to have a distinctive walk, similar to a drunken stagger. They may also have difficulty speaking and swallowing.

This article discusses the symptoms, diagnosis, prognosis, and treatment of Machado-Joseph disease.

An older man sitting and staring in his wheelchair
TommL / Getty Images

Cause of Machado-Joseph Disease

MJD has been linked to a genetic defect in the ATXN3 gene on chromosome 14. It is an autosomal dominant condition, meaning only one parent has to have the gene for a child to be affected. If you have the condition, your child has a 50% chance of inheriting it.

The condition is most commonly seen in people of Portuguese or Azorean descent. On the island of Flores in the Azores, 1 in 140 people is affected. However, MJD can occur in any ethnic group.

Although MJD is the most common type of spinocerebellar ataxia, all spinocerebellar ataxia disorders are uncommon or considered rare.

Machado-Joseph Disease Symptoms

There are three different types of MJD. The type you have depends on when symptoms start and the severity of those symptoms. Here is a look at the most common characteristics and symptoms of those three types:

Type Age of Onset Symptom Severity and Progression Symptoms
Type I (MJD-I) 10-30 years of age Symptom severity progresses rapidly.
Severe involuntary muscle spasms (dystonia)
Stiffness (rigidity)
Type II (MJD-II) 20-50 years of age Symptoms worsen gradually over time.
Continuous, uncontrolled muscle spasms (spasticity)
Difficulty walking due to muscle spasms (spastic gait)
Poor reflexes
Type III (MJD-III) 40-70 years of age Symptoms slowly worsen over time.
Muscle twitching
Numbness, tingling, cramps, and pain in the hands, feet, arms, and legs (neuropathy)
Loss of muscle tissue (atrophy)

Many individuals with MJD also have:

  • Vision problems, such as double vision (diplopia) and inability to control eye movements
  • Trembling in their hands
  • Problems with balance and coordination

Others may develop:

  • Facial or tongue twitching
  • Neuropathy
  • Sleep disorders
  • Problems with urinating and the autonomic nervous system, which regulates functions like breathing, digestion, heart rate, and blood pressure

Although not well studied, some research has described chronic pain as a frequent and often disabling complaint for people with MJD. In one study, the lower back was the most frequently reported location of pain.

How Machado-Joseph Disease Is Diagnosed

MJD is diagnosed based on the symptoms you are experiencing. Since the disorder is inherited, it is important to look into your family history. If relatives have symptoms of MJD, ask when their symptoms began and how quickly they developed.

A definitive diagnosis can only come from a genetic test, which would look for defects in your 14th chromosome.

Prognosis for Machado-Joseph Disease

For those living with early onset, or MJD-I, life expectancy can be as short as the mid-30s. Those with mild MJD or a late-onset type (MJD-III) generally have a normal life expectancy.

Life expectancy varies depending on the type of MJD. People experiencing more severe forms of MJD typically live for six to 10 years with the condition. Life expectancy ranges from the mid-30s for those with severe forms of MJD to a normal life expectancy for those with mild forms.

Treatment for Machado-Joseph Disease

Currently, there is no cure for Machado-Joseph disease or a way to stop its symptoms from progressing.

There are, however, medications that can help relieve symptoms:

  • Baclofen (Lioresal) or botulinum toxin (Botox) can help reduce muscle spasms and dystonia.
  • Levodopa therapy, a therapy used for people with Parkinson's disease, can help lessen stiffness and slowness. 
  • Physical therapy and assistive equipment can help individuals with movement and daily activities.
  • For visual symptoms, prism glasses can help reduce blurred or double vision.

Summary

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, or SCA3, is an inherited ataxia disorder that causes a progressive lack of coordination in the arms and legs. Other symptoms may include numbness, tingling, cramps, vision problems, neuropathy, sleep disorders, and more. There is no cure, but medications can help relieve symptoms.

6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. Bettencourt C, Lima M. Machado-Joseph Disease: from first descriptions to new perspectives. Orphanet J Rare Dis. 2011;6(1):35.

  2. National Institute of Neurological Disorders and Stroke. Spinocerebellar ataxias including Machado-Joseph disease.

  3. National Organization of Rare Diseases. Machado-Joseph disease.

  4. Physiopedia. Machado-Joseph disease (spinocerebellar ataxia type 3).

  5. Child Neurology Foundation. Machado-Joseph Disease.

  6. França MC, D’Abreu A, Friedman JH, Nucci A, Lopes-Cendes I. Chronic pain in machado-joseph disease: a frequent and disabling symptom. Arch Neurol. 2007;64(12):1767.

Additional Reading
  • "Machado-Joseph Disease." Index of Rare Diseases. National Organization for Rare Disorders. 15 Feb 2007.
  • "Machado-Joseph Fact Sheet." Disorders. 16 Apr 2014. National Institute of Neurological Disorders and Stroke.

By Mary Kugler, RN
Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems.