X-linked parkinsonism-spasticity syndrome

X-linked parkinsonism-spasticity syndrome is a rare neurological disorder with a genetic basis. It is characterized by parkinsonian features such as resting or action tremor, cogwheel rigidity, reduced facial expression (hypomimia), and slowed movement (bradykinesia). In addition to these motor symptoms, people with this condition may experience spasticity, which means stiffness in the muscles, along with signs like hyperactive deep tendon reflexes and a positive Babinski sign. The variability in symptoms can make the condition challenging to recognize and diagnose.

The common symptoms include parkinsonian features such as tremor (which may be present at rest or during movement), stiffness in the muscles (cogwheel rigidity), reduced facial expressiveness, and slow movement. In addition, spasticity and signs that suggest abnormal nerve function, such as hyperactive reflexes and a positive Babinski sign, are noted.

X-linked parkinsonism-spasticity syndrome is caused by genetic changes involving the ATP6AP2 gene. Because this condition follows an X-linked pattern, the genetic mutation is located on the X chromosome. This means that the inheritance pattern is linked to the X chromosome and may affect people differently depending on their genetic makeup.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.