Summary. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).
There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in PKAN patients. Deferiprone, an iron chelator, has been shown to be safe and tolerable in PKAN patients, as well as effective in reducing brain iron accumulation as measured by MRI.
Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase–associated neurodegeneration.
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur.
In Leigh's disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP).
Cranial dystonia affects the head, face, and neck muscles. Oromandibular dystonia causes spasms of the jaw, lips, and tongue muscles. This dystonia can cause problems with speech and swallowing. Spasmodic dystonia affects the throat muscles that are responsible for speech.
Overview. Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This buildup is caused by a deficiency of an enzyme that helps break down lipids called sulfatides.