Pantothenate kinase-associated neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration (PAN-doh-then-ate KIN-ase as-SO-see-ated NEU-ro-de-gen-er-ation) is a rare, genetic neurological disorder characterized by the progressive degeneration of the nervous system.
Etymology
The term "Pantothenate Kinase-Associated Neurodegeneration" is derived from the name of the enzyme Pantothenate Kinase that is affected in this disorder, and Neurodegeneration, which refers to the progressive loss of nerve cells.
Definition
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a type of Neurodegeneration with Brain Iron Accumulation (NBIA), a group of inherited neurological disorders in which iron accumulates in the basal ganglia causing progressive dystonia, spasticity, and other neurological symptoms. PKAN is caused by mutations in the PANK2 gene.
Symptoms
The symptoms of PKAN usually begin in early childhood and may include Dystonia (involuntary muscle contractions), Dysarthria (difficulty speaking), Parkinsonism (symptoms similar to Parkinson's disease), and Retinitis Pigmentosa (a group of rare genetic disorders that involve a breakdown and loss of cells in the retina).
Diagnosis
Diagnosis of PKAN is based on clinical examination, the presence of specific neurological symptoms, and confirmed by genetic testing showing mutations in the PANK2 gene.
Treatment
There is currently no cure for PKAN. Treatment is symptomatic and supportive, and may include physical therapy, medication for dystonia, and nutritional support due to difficulties with swallowing.
See Also
- Neurodegeneration with Brain Iron Accumulation
- Pantothenate Kinase
- PANK2
- Dystonia
- Dysarthria
- Parkinsonism
- Retinitis Pigmentosa
External links
- Medical encyclopedia article on Pantothenate kinase-associated neurodegeneration
- Wikipedia's article - Pantothenate kinase-associated neurodegeneration
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