Pediatric neurology
-
Pediatric neurology · May 2010
Case ReportsNovel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner. Both forms of myotonia congenita are attributable to mutations in the CLCN1 gene. ⋯ L287I mutation in the CLCN1 gene. The patient's unaffected father carries the same mutation, most likely reflecting autosomal-recessive myotonia congenita, with an inability to find a second mutation. The patient received carbamazepine treatment for 1 year, resulting in decreased muscle stiffness, increased strength, and improved quality of life in school and with peers.
-
Pediatric neurology · May 2010
Comparative StudyHealth-related quality of life in children with Friedreich ataxia.
The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The health-related quality of life of children with Friedreich ataxia was assessed using the PedsQL 4.0 Generic Core Module and Multidimensional Fatigue Scale. ⋯ Children with Friedreich ataxia and their proxies reported lower health-related quality of life than did controls in the Core and Fatigue scales. A modest relationship was seen between markers of disease status and health-related quality of life, providing support for the idea that children with Friedreich ataxia have a lower health-related quality of life than those without a chronic disease. Additional studies are needed to examine the relationship between health-related quality of life and disease markers and to further establish the validity of the PedsQL 4.0 in this population.