Pantothenate kinase-associated neurodegeneration
Alerts and Notices
Important News & Links
Synopsis
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, particularly in the basal ganglia. It is caused by PANK2 mutations on chromosome 20.
In classic PKAN, symptoms typically begin in early childhood with limb dystonia, spasticity, clumsiness, and frequent falls. Most children lose independent ambulation by 10 years of age. There is a stepwise decline with progression to death by early adulthood. Signs and symptoms include progressive dystonia, chorea, rigidity, postural instability, tremor, dysarthria, dysphagia, pigmentary retinal degeneration, dementia, and behavior changes.
Atypical PKAN tends to have a later age of onset with psychiatric disturbances or speech changes and a slower disease progression. Abnormal movements are a common feature, most often dystonia.
In classic PKAN, symptoms typically begin in early childhood with limb dystonia, spasticity, clumsiness, and frequent falls. Most children lose independent ambulation by 10 years of age. There is a stepwise decline with progression to death by early adulthood. Signs and symptoms include progressive dystonia, chorea, rigidity, postural instability, tremor, dysarthria, dysphagia, pigmentary retinal degeneration, dementia, and behavior changes.
Atypical PKAN tends to have a later age of onset with psychiatric disturbances or speech changes and a slower disease progression. Abnormal movements are a common feature, most often dystonia.
Codes
ICD10CM:
G23.0 – Hallervorden-Spatz disease
SNOMEDCT:
2992000 – Pigmentary pallidal degeneration
G23.0 – Hallervorden-Spatz disease
SNOMEDCT:
2992000 – Pigmentary pallidal degeneration
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:08/19/2018
Last Updated:01/20/2022
Last Updated:01/20/2022