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Pantothenate Kinase-Associated Neurodegeneration (PKAN), a form of Neurodegeneration. Neurodegeneration with Brain Iron Accumulation (NBIA) develops when iron accumulates in the brain resulting in nerve damage and other debilitating symptoms. PKAN is the most common form of NBIA and 30 to 50% of MBIA patients are diagnosed with PKAN.

Also referred to as:

  • Hallervorden-Spatz Syndrome
  • HARP
  • HSS
  • NBIA1
  • neurodegeneration with brain iron accumulation type 1
  • Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus

 

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Symptoms:

Symptoms include dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs

 

Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood. Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Symptoms include:

  • dystonia (repetitive uncontrollable muscle contractions that may cause jerking or twisting of certain muscle groups)
  • dysphagia & dysarthria due to muscle groups involved in speech being involved
  • rigidity/stiffness of limbs
  • tremor
  • writhing movements
  • dementia
  • spasticity
  • weakness
  • seizures (rare)
  • toe walking
  • retinitis pigmentosa, another degenerative disease that affects the individual’s retina, often causing alteration of retinal color and progressive deterioration of the retina at first causing night blindness and later resulting in a complete loss of vision
Affected Population:

PKAN affects one in 1 million people and is caused by genetic defects.

 

Genetics

PKAN is inherited and is called an autosomal recessive disorder.

 

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Contact these non-profit organizations to learn more about PKAN and NBIA disorders:

Dana Jones Foundation

ENACH

NBIA Cure

Spoonbill Foundation

Featured

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ENACH Announcement Video

NBIA Disorder Isabel Valle

PKAN Updates

Where You Purchase Your Christmas Tree Could Save a Life 

PKAN Treatment Case Studies

Dominican Republic Patients on Compassionate Use Treatment

Cyprus Patient on Compassionate Use

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298713/

Learn more about the Fort Study here.

Related Terms:

Eye of the Tiger

MRI

Iron accumulation

NBIA Disorders

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