Pantothenate Kinase-associated Neurodegeneration - Signs and Symptoms

Signs and Symptoms

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
• Rigidity (neurology)
• 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.

25% of individuals experience an uncharacteristic form of PKAN that develops post-10 years of age and follows a slower, more gradual pace of deterioration than those pre-10 years of age. These individuals face significant speech deficits as well as psychiatric and behavioral disturbances.

Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Death occurs prematurely due to infections such as pneumonia, and the disease in itself is technically not life limiting.