Epidemiological Patterns of Neurological and Neuromuscular Disorders in the Potohar Region of Pakistan

Neurodevelopmental disorders (NDDs) are major contributors to cognitive, behavioral, communication, and motor impairments arising from abnormal brain development. Pakistan lacks comprehensive epidemiological data on NDDs, limiting evidence-based health planning and targeted interventions.

To determine the prevalence patterns and bio-demographic correlates of neurological disorders (ND) and neuromuscular disorders (NMD) in the population of the Potohar plateau, Pakistan.

A cross-sectional study (2019-2023) was conducted using a mixed recruitment approach involving district hospitals, community settings, and door-to-door surveys. Standardized classification was performed using OMIM and ICD-10 databases. Descriptive statistics and multivariable logistic regression analyses were applied.

A total of 1169 independent patients were enrolled; 62% were males. Most participants belonged to rural, low-income, and nuclear-family backgrounds. ND accounted for 63% of cases and NMD for 37%, further classified into 70 minor entities. The most prevalent ND was intellectual disability (ID, 36%), followed by Down syndrome (8%) and microcephaly (7%). Among NMD, cerebral palsy (CP, 35%) and muscular dystrophies (8%) predominated. Parental consanguinity was 76% overall, highest in ID (81%) and lowest in epilepsy (59%). Sixty-five percent of anomalies were sporadic, while 35% were familial. More than 30 rare disorders were also identified. Age showed strong associations, with older participants more likely to present with ND, and younger children with NMD, particularly CP. Socioeconomic status demonstrated a protective effect against CP but not against ID.

This study documents a substantial burden of neurological and neuromuscular disorders in the Potohar region, dominated by ID and CP and characterized by high consanguinity and a significant number of rare disorders. The findings highlight the urgent need for improved antenatal care, early diagnosis, health education, and strengthened molecular diagnostic services to reduce the burden and improve outcomes for affected populations.