Because its symptoms overlap with other neurological disorders, JPD is hard to pin down; ATP1B4 and microglial activation and inflammation are among the genetic leads.
Missing myelin causes muscle weakness, developmental delay and involuntary eye movements; unusual cases are sorted out by testing PLP1, MAL and MAG variants.
High arches can follow neurological conditions such as Charcot-Marie-Tooth disease or Friedreich's ataxia, and also muscular dystrophy, cerebral palsy or trauma.
Involuntary sounds range from grunts and throat clearing to repeated words, and may follow head trauma, stroke or encephalitis as well as Tourette syndrome.
Discover the role of genetic testing in diagnosing Progressive Spastic Paraparesis, a rare genetic disorder. Learn about recent gene mutation discoveries and their impact on…
Discover the importance of diagnosing prolonged prothrombin time, how genetic testing can identify underlying causes, and guide personalized treatment plans.
Turner, Noonan and Silver-Russell syndromes, growth hormone problems and skeletal dysplasias can all cause PSS; diagnosis pairs hormone tests, imaging and genetics.
Discover the role of genetic testing in diagnosing refractory anemia with ringed sideroblasts (RARS), its connection to hemochromatosis, and decitabine treatment options.