Arzu YILMAZ, Arife USLU GÖKÇEOĞLU, Beril TALİM, Abdullatif BAKIR, Nursel ATAY

Limb Girdle Muscular Dystrophy Type 2a: Case Report

Limb Girdle Muskular distrofi (LGMD) kalça ve omuz ekleminde progresif kronik güçsüzlük ile seyreden kalıtımsal bir grup kas distrofisidir. Kalıtım paterni otozomal dominant (LGMD1) ve otozomal resesif (LGMD2) olarak ikiye ayrılır. LGMD tip 2A kalpain proteinini kodlayan gen defektine neden olan kalpainopati olarak bilinmektedir. Kas güçsüzlüğü ve başlangıç yaşına göre 3 çeşit kalpainopati tipi vardır. Bu yazıda asemptomatik persistan kreatin kinaz yüksekliği olan, kas biyopsisi ve genetik analiz ile LGMD tip 2A tanısı alan çocuk hasta sunulmaktadır. Genetik analiz sonucunda CAPN3 geninde (c.2092C>A) homozigot mutasyonu mevcut olup ebeveynlerin genetik analizinde heterozigot taşıyıcı olarak saptanmıştır.

Anahtar Kelimeler:

Biyopsi, Kalpainopati, Kas, Muskular distrofi, Limb girdle muskular distrofi

Limb Girdle Muskuler Distrofi Tip 2a: Vaka Sunumu

Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular distrophy with chronic progressive weakness of hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). LGMD 2A is known as calpainopathy in which there was a defect of gene encoding the protein named as calpain. There are three calpainopathy phenotypes according to distribution of muscle weakness and age at onset. In this report, we presented an asymptomatic child with persistant hyper CKemia diagnosed with muscle biopsy and genetic testing. Genetical examination results of the patient showed homozygote mutation of CAPN3 gene(c.2092C>A) and parents revealed that they were heterozygous unaffected carriers.

Keywords:

Biopsy, Calpainopathy, Muscle, Muscular dystrophy, Limb girdle muscular distrophy,

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