Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.
In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7-28 years (median: 17 years). The clinical presentation was extremely variable; however, a continuum did exist between severe and less severe congenital forms, and later-onset forms, without genotype-phenotype correlation. We observed some unusual presentations, such as 3 cases of isolated club-feet during the neonatal period, and 7 patients (23%) with a completely isolated mental deficiency, language delay and school failure, who only completed the clinical picture several years later. Wechsler scale testing was performed in all cases, and repeated with 8 patients. It demonstrated a decrease in intellectual abilities in 5 patients, suggesting the possibility of a degenerative cerebral process occurring in these children. This decrease has also been reported in some adult cases. This study illustrates the extremely heterogeneous clinical presentation of myotonic dystrophy in childhood.
Echenne
Bernard
B
Service de Neuropédiatrie, Centre hospitalier universitaire de Montpellier, France. Bernard.Echenne@USherbrooke.ca
Rideau
Aline
A
Roubertie
Agathe
A
Sébire
Guillaume
G
Rivier
François
F
Lemieux
Bernard
B
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology / Q000209:etiology; D018450:Disease Progression; D005838:Genotype; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D009483:Neuropsychological Tests; D010641:Phenotype; D012189:Retrospective Studies; D013995:Time; D014888:Wechsler Scales