Hallervorden-Spatz disease (HSD) is also known as:
- neurodegeneration with brain iron accumulation (NBIA)
- pantothenate kinase-associated neurodegeneration (PKAN)
It’s an inherited neurological disorder. It causes issues with movement. HSD is a very rare but serious condition that worsens over time and can be fatal.
HSD causes a wide variety of symptoms that vary based on the severity of the disease and how long it’s progressed.
Distorting muscle contractions are a common symptom of HSD. They may occur in your face, trunk, and limbs. Unintentional, jerky muscle movements are another symptom.
You may also experience involuntary muscle contractions that cause abnormal posture or slow, recurring movements. This is known as dystonia.
Other symptoms of HSD include:
- rigid muscles
- writhing movements
- difficulty swallowing, or dysphagia
Less common symptoms include:
- vision changes
- poorly articulated speech
- facial grimacing
- painful muscle spasms
HSD is a genetic disease. It’s usually caused by an inherited defect in your pantothenate kinase 2 (PANK2) gene.
The PANK2 protein controls your body’s formation of coenzyme A. This molecule helps your body convert fats, some amino acids, and carbohydrates into energy.
In some cases, HSD isn’t caused by PANK2 mutations. Several other gene mutations have been identified in association with Hallervorden-Spatz disease, but they’re less common than the PANK2 gene mutation.
In HSD, there’s also a buildup of iron in certain parts of the brain. This buildup causes the symptoms of the disease and it worsens over time.
HSD is inherited when both parents have the disease-causing gene and pass this onto their child. If only one parent had the gene you would be a carrier that could pass it onto your children, but you wouldn’t have any symptoms of the disease.
HSD generally develops in childhood. Late-onset HSD may not show up until adulthood.
If you suspect you have HSD, discuss this concern with your doctor. They’ll ask you about your personal and family medical history. They’ll also perform a physical exam.
You may need a neurological exam to check for:
Your doctor may order an MRI scan to rule out other neurological or movement disorders.
Screening for HSD isn’t typical, but it can be obtained if you have symptoms. If you have a family risk of the disease, you can have your baby genetically tested with an amniocentesis while in utero.
Currently, there’s no cure for HSD. Instead, your doctor will treat your symptoms.
Treatment varies depending on the person. However, it may include therapy, medication, or both.
Physical therapy can help prevent and reduce muscle rigidity. It may also help reduce your 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 help you manage dysphagia or speech impairment.
Your doctor may prescribe one or more types of medication. For example, your doctor may prescribe:
- methscopolamine bromide for drooling
- baclofen for dystonia
- benztropine, which is an anticholinergic drug used to treat muscle rigidity and tremors
- memantine, rivastigmine, or donepezil (Aricept) to treat the symptoms of dementia
- bromocriptine, pramipexole, or Levodopa to treat dystonia and Parkinson-like symptoms
If you’re unable to move, it can cause health problems. These include:
Some HSD medications may also have side effects.
HSD gets worse with time. It tends to progress faster in children with the condition than people who develop HSD later in life.
However, medical advances have increased life expectancy. People with late-onset HSD may live well into adulthood.
There’s no known way to prevent HSD. Genetic counseling is recommended for families with a history of the disease.
Talk to your doctor about a referral to a genetic counselor if you’re thinking about starting a family and you or your partner have a family history of HSD.