What is Hallervorden-Spatz Disease?
Hallervorden-Spatz disease is a genetic disorder that involves progressive neurological degeneration along with the accumulation of iron in the brain.(1)
It is also known by the following terms:
- Neurodegeneration with brain iron cumulation (NBIA)
- Pantothenate kinase-associated neurodegeneration (PKAN).
It is rare but a serious condition that gets worse with time and can also be fatal.
What Causes Hallervorden-Spatz Disease?
Being an inherited disease, Hallervorden-Spatz disease is caused by the defect in the pantothenate kinase 2 (PANK2) genes.
Pantothenate kinase is a protein that controls the body’s formation of coenzyme A that helps the body convert fats, some amino acids, and carbohydrates into energy.
In some cases, this disease is caused by mutation of the PANK2 gene. There are other genes also involved with Hallervorden-Spatz disease but are less common.
The symptoms of Hallervorden-Spatz disease crop up due to the build-up of iron in certain parts of the brain. The symptoms worsen with time.
If both the parents have a disease-causing gene, it is passed on to the child. But if only one parent has the gene then there are chances of the child to become a carrier and pass it on to his children if his or her partner has the disease-causing gene.
Symptoms of Hallervorden-Spatz Disease
Depending on the severity of illness, Hallervorden-Spatz disease causes a variety of symptoms.
- Distorting muscle contraction is a common symptom that may occur on the face, trunk, and limb.
- Unintentional jerky movements
- There are involuntary muscle contractions that may lead to abnormal posture, which is called dystonia
- Difficulty in coordinating movements that are known as ataxia.
- There may be difficulty in walking 10 or more years after occurring of symptoms
The other symptoms of Hallervorden-Spatz disease include:
- Tremors
- Rigid muscles
- Writhing movements
- Seizures
- Confusion
- Drooling
- Stupor
- Weakness
- Disorientation
- Dementia
- Difficulty in swallowing
A few less common symptoms of Hallervorden-Spatz disease are:
- Vision changes
- Painful muscle spasms
- Poorly articulated speech
- Facial grimacing
Inability to move can cause health problems such as:
- Skin breakdown
- Bedsores
- Blood clots
- Respiratory infections
How is Hallervorden-Spatz Disease Diagnosed?
A complete medical history is taken by the doctor. Physical examination is done.
A neurological examination is done to check for:
- Tremors
- Muscle rigidity
- Weakness
- Abnormal movements
An MRI scan is done to rule out any neurological and movement disorders.
Treatment of Hallervordan-Spatz Disease
There is no cure for Hallervordan-Spatz disease. Treatment is done on the basis of the symptoms.
The treatment plan may include therapy and medication together.
Therapy for Hallervorden-Spatz Disease
The rigidity of the muscles is prevented by physical therapy which may also help reduce muscle spasm and other muscular issues.
Occupational therapy can be recommended that can be of help in developing daily skills and also help retain current abilities.
Speech therapy helps manage dysphagia or speech impairment.
Medications to Treat Hallervorden-Spatz Disease
There are certain medications that are prescribed to control dystonia, rigidity, and tremors.
Sometimes the combination of medication and therapy is given and together they yield better results.
Some medications can also cause side effects.
Hallervorden-Spatz disease worsens with time and tends to progress faster in children. If medically managed, it can increase life expectancy.
It is good to speak with the doctor or a genetic counsellor, if planning to start a family and if both or any one of the partners is suffering from family history of Hallervorden-Spatz disease.
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