AIM: To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy - a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted. METHODS: Genetically confirmed cases of CDM demonstrating symptoms in the first four weeks of life are described. Patients (or their caregivers) and physicians completed survey information at baseline and annually thereafter. RESULTS: Twenty-one patients were included (13 male and eight female), ranging from three to 24 years of age. The CTG trinucleotide repeat number ranged from 940 to 2100. Gastrointestinal, pneumonia and cardiac morbidities were most common. No deaths were noted. CONCLUSIONS: The United States Registry is a valuable resource for clinical research on patients with CDM; however, in contrast with the Canadian Paediatric Surveillance Program, some limitations are identified.
AIM: To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy - a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted. METHODS: Genetically confirmed cases of CDM demonstrating symptoms in the first four weeks of life are described. Patients (or their caregivers) and physicians completed survey information at baseline and annually thereafter. RESULTS: Twenty-one patients were included (13 male and eight female), ranging from three to 24 years of age. The CTGtrinucleotide repeat number ranged from 940 to 2100. Gastrointestinal, pneumonia and cardiac morbidities were most common. No deaths were noted. CONCLUSIONS: The United States Registry is a valuable resource for clinical research on patients with CDM; however, in contrast with the Canadian Paediatric Surveillance Program, some limitations are identified.
Authors: J González de Dios; M L Martínez Frías; J Egües Jimeno; J M Gairi Tahull; F Gómez Sabrido; M C Morales Fernández; L Paisán Grisolía; M Pardo Romero; M Medina Rams Journal: An Esp Pediatr Date: 1999-10
Authors: Evan M Pucillo; Deanna L Dibella; Man Hung; Jerry Bounsanga; Becky Crockett; Melissa Dixon; Russell J Butterfield; Craig Campbell; Nicholas E Johnson Journal: Muscle Nerve Date: 2017-02-13 Impact factor: 3.217