Moderately progressive Ullrich congenital muscular dystrophy.
OBJECTIVE
To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses.


METHODS
This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibroblasts of a 7 1/2-year old boy and of the DNA of his parents. Clinical aspects and differential diagnosis with other disorders are discussed.


CONCLUSIONS
A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases. Genetic evaluation of UCMD patients has relevant implications for prognosis and genetic counseling of the family. The dissemination of this disorder in the pediatric community is advisable, because of the early onset of clinical manifestations and the fact that it is frequently misdiagnosed or not diagnosed at all.
Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil. clinicagenetica@gmail.com
Gerson
G
Carakushansky
Marcia Gonçalves
MG
Ribeiro
Evelyn
E
Kahn
D002648:Child; D024142:Collagen Type VI / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005347:Fibroblasts / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010290:Parents
C553839:Col6a1 protein, human; D024142:Collagen Type VI