Hallervorden-Spatz disease (HSD) is also known as neurodegeneration with brain iron accumulation or pantothenate kinase-associated neurodegeneration. It’s an inherited neurological disorder. It causes issues with movement. It’s a rare but serious condition that worsens over time. HSD can be fatal.
HSD causes a wide variety of symptoms that vary based on the severity of your HSD and how long it’s had to progress.
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.
HSD may also make it difficult to coordinate your movements. This is known as ataxia.
Other symptoms of HSD include:
- rigid muscles
- writhing movements
- a lack of balance when walking, or ataxia
- 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. Instead, scientists assume it’s caused by defects in one or more other genes. Those genes haven’t been identified yet.
You’re at greater risk of HSD if you have a parent with the condition. 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. This disease can be inherited. They’ll also perform a physical exam.
You may need a neurological exam to check for:
- muscle rigidity
- abnormal movement or posture
Your doctor may order an MRI scan to rule out other neurological or movement disorders.
Genetic tests for HSD aren’t widely available.
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:
If you’re unable to move, it can cause health problems. These include:
- skin breakdown
- bed sores
- blood clots
- respiratory infections
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.