parkinsonism-dystonia, infantile

Parkinsonism-dystonia, infantile is an extremely rare inherited neurological syndrome that typically presents in early infancy with marked movement abnormalities. The condition is linked to pathogenic variants in the SLC6A3, SLC18A2, and WARS2 genes, all of which are involved in dopamine transport and neurotransmitter regulation in the brain. Affected children usually exhibit parkinsonian features along with dystonia and developmental delays. It is very rare, affecting fewer than 1 in 1,000,000 people, and severity varies widely between individuals.

Children with parkinsonism-dystonia, infantile frequently exhibit parkinsonism and dystonia as core symptoms, with many also experiencing global developmental delay, hypertonia, and absent speech. Neurological features such as bradykinesia, chorea, orofacial dyskinesia, and oculogyric crises are commonly reported, reflecting involvement of motor control pathways. Additionally, gastrointestinal issues like constipation and gastroesophageal reflux, as well as feeding difficulties, cerebral palsy, a hypomimic face, and irritability may be observed. Not all individuals experience all features, and severity varies considerably.

The underlying cause of parkinsonism-dystonia, infantile is associated with pathogenic variants in the SLC6A3, SLC18A2, and WARS2 genes. These genes are essential for proper dopamine transport and neurotransmitter regulation in the brain, which in turn impacts motor control and cognitive functions. Although the specific inheritance pattern has not been clearly established, the genetic contribution is evident, and confirming the diagnosis through genetic testing is important. Genetic counseling is recommended to help families understand the implications of these findings.

Currently, management of parkinsonism-dystonia, infantile focuses on supportive care and symptom management, as no treatments are specifically approved for this condition. Treatment is individualized and typically involves a multidisciplinary team that may include neurology, physical therapy, and developmental specialists to address motor and developmental challenges. Regular surveillance is an essential part of long-term care to detect potential complications early. Patients and families are encouraged to discuss treatment options with their healthcare team and seek genetic counseling to better understand their situation.

The prognosis for parkinsonism-dystonia, infantile is highly variable, with outcomes ranging from periods of relative stabilization to more pronounced motor and developmental challenges over time. With current standards of care, improvements in supportive management have contributed to better quality of life for many affected individuals. Outcomes described in medical literature continue to evolve as standards of care improve, and severity and symptoms vary widely between individuals. Families are encouraged to connect with specialists and genetic counselors to explore management strategies and receive ongoing support.

Clinical trials are underway exploring new treatment approaches for parkinsonism-dystonia, infantile. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.