What Is Hallervorden-Spatz Disease?

    Hallervorden-Spatz disease (HSD) is an inherited neurological disorder. It causes issues with movement. A rare disease, it is a serious condition that worsens over time. HSD can be fatal.

    What Causes Hallervorden-Spatz Disease?

    HSD, sometimes referred to as pantothenate kinase-associated neurodegeneration, is a genetic disease. It is caused by an inherited defect in the pantothenate kinase 2 (PANK2) gene. The PANK2 protein controls the formation of coenzyme A. This molecule helps your body convert fats, some amino acids, and carbohydrates into energy.

    In some cases, HSD is not caused by PANK2 mutations. Instead, scientists assume it is caused by defects in one or more other genes. Those genes have not yet been identified.

    Who Is at Risk for Hallervorden-Spatz Disease?

    You are at greater risk for HSD if you have a parent with the condition. HSD generally develops in childhood. Late-onset HSD may not show up until adulthood.

    What are the Symptoms of Hallervorden-Spatz Disease?

    HSD is also known as neurodegeneration with brain iron accumulation. It causes a wide variety of symptoms. These vary based on the severity of HSD and how long it has had to progress.

    Distorting muscle contractions are a common symptom of HSD. They occur in the face, trunk, and limbs. Unintentional, jerky muscles movements are another symptom. You may also experience involuntary muscle contractions that cause abnormal posture or slow, recurring movements. This is known as dystonia.

    HSD may make it difficult to coordinate movements. This is known as ataxia.

    Other symptoms of HSD include:

    • rigid muscles
    • writhing movements
    • confusion
    • disorientation
    • stupor
    • seizures
    • dementia
    • weakness
    • tremors
    • drooling
    • difficulty swallowing (dysphagia)

    Less common symptoms are:

    • vision changes
    • poorly articulated speech
    • facial grimacing
    • painful muscle spasms

    How Is Hallervorden-Spatz Disease Diagnosed?

    If you suspect that you have HSD, your physician will ask you about your medical history. He may also ask about your family history, because the disease can be inherited. Your doctor will perform a physical exam.

    To diagnose HSD, you may need a neurological exam. This looks for tremors, muscle rigidity, weakness, and abnormal movement or posture. An MRI might be used to rule out other neurological or movement disorders.

    Genetic tests for HSD are not widely available.

    How Is Hallervorden-Spatz Disease Treated?

    As of now, there is no cure for HSD. Instead, your doctor will treat your symptoms. Treatment will vary from person to person. However, it may include both therapy and medication.

    Therapy

    Physical therapy helps to prevent and reduce muscle rigidity. It may also help with muscle spasms and other muscular issues.

    Occupational therapy can help you develop skills for daily life. It can also help you retain your current abilities.

    Speech therapy can be useful for dysphagia or speech impairment.

    Medication

    Methscopolamine bromide can be used for drooling.

    Baclofen is a muscle relaxer that can treat dystonia.

    Benztropine is an anticholingeric agent used to treat rigidity and tremors.

    Memantine, rivastigmine and donepezil may help dementia.

    Complications of Hallervorden-Spatz Disease

    Not being able to move can cause health problems. These include:

    • skin breakdown
    • bed sores
    • blood clots
    • respiratory infections

    Some HSD medications may also have side effects.

    What Is the Prognosis of Hallervorden-Spatz Disease?

    HSD gets worse with time. Progression is faster in affected children than in people who develop HSD later in life. However, medical advances have increased life expectancy. People with late-onset HSD may live well into adulthood.

    Prevention of Hallervorden-Spatz Disease

    There is no known way to prevent HSD. Genetic counseling is recommended for families with a history of the disease.