About pantothenate kinase associated neurodege...

What is pantothenate kinase associated neurodege...?

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and postural disturbances (extrapyramidal). These disorders show radiographic evidence of iron accumulation in the brain. PKAN is typically diagnosed by the characteristic finding on magnetic resonance imaging (MRI) called the "eye-of-the-tiger" sign, which indicates accumulation of iron in the brain in a characteristic pattern.
PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical. Classic PKAN typically appears in early childhood with symptoms that worsen rapidly. Atypical PKAN, which progresses more slowly, appears later in childhood or early adolescence. Some people have been diagnosed in infancy or adulthood and some of those affected have characteristics that are between the two categories.

PKAN was first described in 1922 by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters exhibited progressively increasing dementia and poor articulation and slurred speech (dysarthria). The name Hallervorden-Spatz syndrome became discouraged and was replaced with neurodegeneration with brain iron accumulation because of concerns regarding Dr. Hallervorden's and Dr. Spatz's affiliation with the Nazi regime and their unethical activities surrounding how they obtained many autopsy specimens.

What are the symptoms for pantothenate kinase associated neurodege...?

Involuntary movements symptom was found in the pantothenate kinase associated neurodege... condition

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.

HSD may also make it difficult to coordinate your movements. This is known as ataxia. Eventually, it may cause an inability to walk after 10 or more years of initial symptoms.

Other symptoms of HSD include:

  • rigid muscles
  • writhing movements
  • tremors
  • seizures
  • confusion
  • disorientation
  • stupor
  • dementia
  • weakness
  • drooling
  • difficulty swallowing, or dysphagia

Less common symptoms include:

  • vision changes
  • poorly articulated speech
  • facial grimacing
  • painful muscle spasms

What are the causes for pantothenate kinase associated neurodege...?

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.

What are the treatments for pantothenate kinase associated neurodege...?

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

What are the risk factors for pantothenate kinase associated neurodege...?

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.

Is there a cure/medications for pantothenate kinase associated neurodege...?

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

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