Hallervorden–Spatz syndrome

Also known as: Pantothenate kinase-associated neurodegeneration

Brain iron accumulation disorder with dystonia.

Medical specialty: Neurology
Subspecialty: Neurology / Neurodegenerative syndromes
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: PANK2

Etiology & mechanism

PANK2 loss causing CoA deficiency.

Gene(s) involved (1)

PANK2

Symptoms & signs (5)

dysarthriadystoniaeye-of-the-tiger signretinitis pigmentosaspasticity

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.