Neurodegeneration with Brain Iron Accumulation (Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration)

What is Neurodegeneration with Brain Iron Accumulation?

NBIA (neurodegeneration with brain iron accumulation), previously known as Hallervorden-Spatz disease (HSD), is a rare inherited progressive neurological disorder.

What causes NBIA?

NBIA, also known as HSD, is a genetic disorder caused by defects that affect the PANK2 gene, the gene containing the instructions for the protein PANK2, which regulates the creation of coenzyme A. This enzyme plays an important role in the metabolism of fats and carbohydrates to produce energy.

It may also be possible that other genes are involved, however these specific genes have not yet been identified.

Who is affected by NBIA?

Most cases develop in childhood, although adult onset is possible. Family history increases your risk of developing NBIA.

How is NBIA diagnosed?

If your GP suspects that your symptoms may be suggestive of NBIA, they will refer you for further neurological tests to confirm a diagnosis. These tests will be used to detect problems such as seizures and tremors, muscle weakness, rigidity in the muscles and abnormal posture. Genetic testing is not used widely for NBIA diagnosis.

What are the symptoms?

NBIA can cause a wide range of symptoms and people can be affected in different ways. Some cases are more severe than others. Common symptoms include:

• involuntary muscle movements
• abnormal muscle contractions in the trunk, arms, legs and face
• jerky movements
• slow movement
• poor posture
• lack of coordination in muscle movement (known as ataxia)
• seizures
• muscle weakness
• rigidity and stiffness
• feeling confused and disorientated
• dribbling
• difficulty swallowing (known as dysphagia)

Symptoms that occur less commonly include:

• pain during muscle spasms
• lack of articulation when speaking
• changes in vision

Sometimes, a lack of mobility and movement can increase the risk of complications such as bed sores, blood clots and skin damage.

What kinds of treatment are available for NBIA?

There is currently no cure for NBIA and treatments are used to reduce the severity of symptoms, make you feel more comfortable and improve movement.

Treatment options include:

• Medication: there are various medications used to alleviate the symptoms associated with NBIA. These include baclofen to relax the muscles, benztropine to treat shakes and rigidity in the muscles and methscopolamine bromide for dribbling and drooling.
• Speech therapy
• Physiotherapy
• Occupational therapy

What is the outlook for people with NBIA?

Cases that develop during childhood tend to be more severe and symptoms progress quickly. Life expectancy is shortened significantly.