Successful long-term therapy with flecainide in a family with paramyotonia congenita

Effects of hoverboard on balance in young soccer athletes

Hoverboards are always more popular among children. Hoverboards are to them like a game or a mean of transport, but they could be used as a valid and useful instrument in children's training programs to improve their performance. In this study, we compared the athletic performance of two groups of 12 children. A total of 24 children aged between 8 and 11 years followed a similar training program for five months, but the first group used a hoverboard (Hb+ group: Age: Standard Deviation (SD) = ...

Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease

Background: Late Onset Pompe Disease (LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on clinical examination. No study quantitatively assessed upright posture defining specific alterations of LOPD various phenotype. Objective: Identify postural abnormalities in a homogeneous group of LOPD patients using 3D Stereophotogrammetry (St) and x-Ray (xR). Methods: Seven LO...

Rare variants in autophagy and non-autophagy genes in late-onset pompe disease: Suggestions of their disease-modifying role in two Italian families

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenoty...