Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients. METHODS AND RESULTS: Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA (<1% in 24-h Holter monitoring) in two patients, and significantly in the third (8% per 24 h) patient. Phenytoin was well-tolerated in all three patients. CONCLUSIONS: We describe a cardiac-predominant phenotype in ATS. ATS should be suspected in patients with typical cardiac manifestations even in the absence of periodic paralysis. Our initial experience with short-term use of phenytoin for control of resistant VAs is encouraging.

Core Stability Exercises Yield Multiple Benefits for Patients With Chronic Stroke: A Randomized Controlled Trial.

OBJECTIVE: This study examined the effect of core stability exercises on trunk control, core muscle strength, standing weight-bearing symmetry, and balance confidence of people with chronic stroke. DESIGN: This was an assessor-blinded randomized controlled trial involving 84 ambulatory patients with middle cerebral artery stroke, randomly assigned to three training groups. Two experimental groups practiced core stability exercises either on stable or on unstable support surfaces. In contrast, the control group received standard physiotherapy. All the participants underwent an hour-long training session a day, thrice a week over a 6-wk duration, and followed-up after 12 mos. Trunk Impairment Scale, core muscle strength, weight-bearing asymmetry in standing, and Activities-specific Balance Confidence scale were the outcome measures. RESULTS: Compared with the control group, the two experimental groups demonstrated a significant improvement on all the outcome measures from baseline to posttraining and from baseline to 12-mo follow-up (P < 0.001). The two experimental groups demonstrated no significant difference between them on all the measures (P > 0.05). CONCLUSIONS: Core stability exercises on stable and unstable support surfaces are equally beneficial in improving trunk control, core muscle strength, standing weight-bearing symmetry, and balance confidence of ambulatory patients with chronic stroke than the standard physiotherapy.