What Is Hallervorden-Spatz Disease?
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.
Are the Symptoms of Hallervorden-Spatz Disease?
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
Causes Hallervorden-Spatz Disease?
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.
Are the Risk Factors for Hallervorden-Spatz Disease?
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
Is Hallervorden-Spatz Disease Diagnosed?
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.
Is Hallervorden-Spatz Disease Treated?
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
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
rivastigmine, or donepezil (Aricept) to treat the symptoms of dementia
of Hallervorden-Spatz Disease
If you’re unable to move, it can cause health problems.
- skin breakdown
- bed sores
- blood clots
- respiratory infections
Some HSD medications may also have side effects.
Is the Outlook for People with Hallervorden-Spatz Disease?
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.
of Hallervorden-Spatz Disease
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.