The quality of life in boys with Duchenne muscular dystrophy

We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living place matched healthy controls were included in this study. Patients and one of their parents separately completed the 27-item Persian version of KIDSCREEN questionnaire (child and adolescent version and parent version). From the children's perspective, the quality of life in patients was found to be lower in two subclasses: “physical activities and health” (p < 0.001) and “friends” (p = 0.005). Parental estimation of their sick child's quality of life was significantly lower than children's own assessment in two subclasses: “physical activities and health” (p < 0.001) and “general mood and feelings” (p < 0.001). Our results indicate that boys with Duchenne muscular dystrophy have quite a satisfactory quality of life. A happier and more hopeful life can be promoted through increasing social support and improving the parental knowledge regarding their child's more positive life perspective. © 2016 Elsevier B.V

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children&rsquo;s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric Pathology Research center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Physical Medicine and Rehabilitation Department, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran; 4Maternal, Fetal and Neonatal Research Center, Imam khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran; 5Physical Medicine and Rehabilitation Department, Children&rsquo;s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, IranAbstract: Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from mutations in the survival motor neuron gene (SMN-1). On the other hand, a rare variant of this condition, named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene (ASAH-1). The latter gene is responsible for lysosomal acid-ceramidase production. SMA-PME has been characterized by a progressive muscle weakness from ages 3&ndash;7&nbsp;years, accompanied by epilepsy, an intractable seizure, and sometimes sensorineural hearing loss. In this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C&gt;T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies.Keywords: muscular atrophy, case report, myoclonic epilepsies, seizure