Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
Muscle Nerve
; 60(6): 732-738, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31520483
ABSTRACT
INTRODUCTION:
Myotonic dystrophy type 1 (DM1) is caused by a CTG (cytosine-thymine-guanine) trinucleotide repeat expansion. Congenital DM (CDM) presents in the first month of life, whereas individuals with infantile and juvenile DM1 have later onset of symptoms.METHODS:
We performed a retrospective chart review of patients with childhood-onset DM1 seen at one of three locations in Dallas, Texas between 1990 and 2018. Symptoms, disease course, cognitive features, and family history were reviewed.RESULTS:
Seventy-four patients were included; CDM was diagnosed in 52 patients. There was maternal inheritance in 74% of patients. CTG repeat number ranged from 143 to 2300. Neuropsychiatric and cognitive deficits were common. Over half of the patients had GI disturbances, and orthopedic complications were common.DISCUSSION:
Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Miotônica
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2019
Tipo de documento:
Article