autosomal recessive juvenile Parkinson disease 2

Autosomal recessive juvenile Parkinson disease 2 is a group of disorders characterized by impaired motor control including bradykinesia, rigidity, tremor, and postural instability. The condition is associated with dysfunction in motor integration pathways, particularly those involving dopaminergic neurons in the basal ganglia. It is caused by pathogenic variants in the PRKN gene and is inherited in an autosomal recessive manner, typically presenting in youth. Precise prevalence estimates are not well established, and affected individuals may experience a range of motor symptoms.

The clinical presentation is defined by a set of core motor features that are consistently observed. Nearly all affected individuals exhibit bradykinesia, hypokinesia, gait disturbance, and a pill-rolling tremor, with parkinsonism being a universally reported characteristic. Additional features such as rigidity, resting tremor, shuffling gait, and postural instability occur in a variable number of cases. Not all individuals experience every symptom, and severity may vary widely between patients.

This condition is caused by pathogenic variants in the PRKN gene, which plays a crucial role in maintaining neuronal function and motor control. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the altered gene – one from each parent – to be affected. Parents, who typically carry one copy of the variant, usually do not show symptoms. Genetic counseling is recommended to help families understand inheritance patterns and explore family planning options.

Currently, management focuses on supportive care and symptom management rather than specific disease-modifying treatments. Treatment plans are individualized and involve a multidisciplinary approach, including physical therapy and regular surveillance to monitor changes in motor function and overall health. Patients are encouraged to discuss care strategies with their healthcare team to determine which interventions may be most beneficial for their situation, and genetic counseling is recommended to address family implications.

Outcomes vary depending on factors such as symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals maintain a good quality of life, although the condition may progress or stabilize differently from one person to another. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors, and support groups can provide additional resources and community support.