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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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Marshall Medical Center South
Boaz
Alabama
35957
United States
Cincinnati Center for Eosinophilic Disorders at Cincinnati Children’s
Cincinnati
Ohio
45229
United States
Eosinophilic Gastrointestinal Disorders Clinic at Texas Children’s Hospital
Houston
Texas
77030
United States
Eosinophilic Gastrointestinal Disorders Clinic – Monroe Carell, Jr. Children’s Hospital at Vanderbilt
Nashville
Tennessee
37232
United States
Children’s Mercy Hospital Autism Services
Kansas City
Missouri
64108
United States
United Blood Services Las Vegas
Las Vegas
Nevada
89117
United States
United Blood Services Henderson
Henderson
Nevada
89014
United States
Contact these non-profit organizations to learn more about PKAN and NBIA disorders:
Dana Jones Foundation
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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.
Patient and Caregiver Support Groups Across the Web
Related Terms:
Eye of the Tiger
MRI
Iron accumulation
NBIA Disorders