Rare Pediatrics News
5 Facts you should know about
Dystonia 27
1
Dystonia 27 is a rare form of inherited dystonia caused by mutations in the gene FGF14, resulting in abnormal movements and postures
2
It typically manifests as childhood-onset generalized dystonia, affecting various body regions
3
Dystonia 27 often involves muscle cramps, involuntary muscle contractions, and twisting movements
4
Diagnosis involves genetic testing to identify FGF14 mutations, alongside clinical assessment and family history
5
Management includes symptomatic treatment with medications targeting muscle control and, in some cases, deep brain stimulation
Rare Pediatrics News
Advertisement