Paediatria Croatica, Vol. 58 No. 4, 2014.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2014.48
Congenital myotonic dystrophy: case report
Sanja Delin
; Opća bolnica Zadar
Linda Pavić
Antun Sasso
Irena Barbarić
Goran Krakar
Ida Nađ
Sažetak
Myotonic dystrophy or Steinert’s disease has the second highest incidence in childhood, immediately after progressive muscular
dystrophies (Duchenne and Becker). The incidence in general population is 1:8000 in Europe and 1:30000 in Croatia. This disease is
inherited in an autosomal dominant manner. The gene is located on the long arm of chromosome 19 (19q13), gene product is myotonin
protein kinase. The disease develops due to pathologic multiplication of the identical CTG trinucleotide repeat inside the noncoding
region of the myotonin protein kinase gene (DMPK). The number of repeating CTG triplets ranges from 5 to 34 and it remains
stable in healthy persons through generations. Diseased people have the extended sequence that consists of 50 to several thousand
CTG trinucleotides, and the severity of the clinical picture and the disease occurrence correlate with the size of the expansion. People
with 35-49 triplets are healthy disease carriers. Mutation is more often transmitted by the mother and every next generation carries
molecular and clinically more severe mutation. Myotonic dystrophy manifests with symptoms in several organic systems: skeletal
striated muscles and smooth intestinal muscles are aff ected, as well as cardiac muscle and its conductive system, endocrine and
immune system, with development of cataract, intellectual disability and neurologic defi cits. This study presents a male infant with
generalized hypotonia, facial dysmorphism, feeble mime, feeding diffi culties and feet deformities. Family history revealed his 7-yearold
brother to be clinically suspected of facioscapulohumeral muscular dystrophy. Targeted neurological examination of the mother
showed weakness of facial muscles, inability to fully close her eyes, action myotonia of the hands and percussion myotonia of the
tongue, all of these pointing to molecular genetic analysis which determined full mutation allele and the need of genetic examination
of the whole family.
Ključne riječi
myotonic dystrophy; genetic testing; infant, newborn
Hrčak ID:
142339
URI
Datum izdavanja:
23.12.2014.
Posjeta: 5.724 *