EAST syndrome is autosomal recessive disorder due to mutations in gene KCNJ10, a gene encoding a potassium channel expressed in the brain,
eye, ear and kidney. It is characterized by four cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and renal salt-wasting Tubulopathy, thus
the acronym EAST syndrome. It was rst described as a distinct clinical entity in 2009 by Bockenhauer and scholl, who named this condition EAST
syndrome and SeSAME syndrome for Seizures, Sensorineural deafness, Ataxia, Mental retardation and Electrolyte imbalance respectively.
Neurodevelopmental delay is evident in most patients with EAST syndrome that were old enough to be assessed; Thus, physiotherapy intervention
also plays a vital role in EAST syndrome along with medical management. From physiotherapy perspective; symptomatic management to Improve
overall health, wellbeing and motor control becomes ultimate goal in the patient with EAST syndrome. As there is no specic physical therapy
treatment approach and no specic tool to evaluate function for children with EAST syndrome; for clinically presented delay development and
ataxia, Neurodevelopment therapy (NDT) was utilized as treatment approach and Gross motor function measure (GMFM) & Gross motor
performance measure (GMPM) were utilized for assessment in this case study to track progress on follow ups. Result showed marked
improvement in GMFM and GMPM scores at follow ups and concluded that Physical therapy intervention improves the gross motor function as
well as gross motor performance in patient with EAST syndrome.
Is Stiff Person Syndrome Benefited by Physical Therapy Intervention? Summary of Case Reports
