Article

The frequency and impact of symptoms experienced by patients with
congenital, childhood, and juvenile-onset myotonic dystrophy (CDM/ChDM/JDM) is
not documented. This report identifies symptomatic areas with the greatest
disease burden in an international population of patients with early-onset
myotonic dystrophy type-1 (DM1). METHOD: We distributed surveys to parents of
patients with CDM/ChDM/JDM. Patients with CDM/ChDM/JDM were members of the US
National Registry of DM1 Patients and Family Members, the Canadian Neuromuscular
Disease Registry, or the Swedish Health System. Surveys inquired about 325
symptoms and 20 themes associated with CDM/ChDM/JDM. Parents identified the
importance of each symptom and theme to their affected child.
The prevalence of
each symptom and theme were compared across subgroups of patients. The
statistical analysis was performed using Fisher's exact and Kruskal-Wallis tests.
RESULTS: One hundred and fifty parents returned surveys.
The most frequently
reported symptomatic themes in children were issues involving communication
(81.7%) and problems with hands or fingers (79.6%). Problems with communication
and fatigue were the issues that were reported to have the greatest impact on
childrens' lives, while 24.1% of children reported cardiac disorders and 15.8%
had problems with anesthesia. INTERPRETATION: A range of symptoms contribute to
the burden of disease faced by children with DM1. Many of these symptoms are under-recognized.
CI - (c) 2015 Mac Keith Press.

Langue : ANGLAIS