Congenital muscular dystrophy in Israeli families

Marianna Rachmiel, Yoram Nevo, Eli Lahat, Miriam Kutai, Shaul Harel, Eli Shahar

Research output: Contribution to journalArticlepeer-review

Abstract

Twelve patients from 11 Israeli families with congenital muscular dystrophy were evaluated between 1991 and 2001. There were six males and six females, of whom six were merosin negative and six were merosin positive. Serum creatine kinase levels were highly elevated in the merosin-negative group. Four of the children were cognitively normal but nonambulant. Two had unusual clinical findings of severe cognitive and motor developmental dysfunction. Four infants in the merosinpositive group who had normal serum creatine kinase levels had early-onset severe motor weakness and died within the first year of life owing to ventilatory insufficiency. The other two were ambulant and had normal cognitive development and elevated serum creatine kinase levels. Noteworthy, two of the six children with merosin-negative congenital muscular dystrophy had cognitive impairment, and four of the six children with merosin-positive congenital muscular dystrophy had a severe form of the disease with ventilatory insufficiency and death during infancy.

Original languageEnglish
Pages (from-to)333-336
Number of pages4
JournalJournal of Child Neurology
Volume17
Issue number5
DOIs
StatePublished - May 2002

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