engleski

OCULOPHARYNGEAL MUSCULAR DYSTROPHY IN A CROATIAN FAMILY WITH A SHORT GCG EXPANSION (GCG)9 IN PABP2 GENE: A CASE REPORT

Oculopharyngeal musular dystrophy (OPMD) (MIM 164 300) is an autosomal dominant generalised myopathy caused by short (GCG)8-13 coding triplet repeat expansions in the polyadenylation binding protein 2 (PABP2) gene. First described in French Canadians (Taylor, 1915), the disease has become a universally recognised. To the best of our knowledge this is the first Croatian family reported to date. The diagnosis in the proband, a 62 –year- old women was based on :1.clinical data (onset at the age of 50 with ptosis, dysphagia, a nasal voice and proximal muscular weakness of lower limbs) ; 2.genealogical analysis ( similar symptoms in the mother, the sister, and the brother, all already dead) ; 3. myogenic pattern of EMG ; 4. moderate elevation of serum creatine kinase ; 5. CT-scan of the skeletal muscles. DNA analysis has confirmed the diagnosis finding allele with normal 6 and mutated 9 (GCG) repeat expansion.

Oculopharyngeal muscular dystrophy; Croatian family; (GCG)9

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