An uncommon case with coexistence of Down syndrome and Duchenne muscular dystrophy
Turk Noroloji Dergisi, cilt.31, sa.3, ss.359-361, 2025 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 31 Sayı: 3
- Basım Tarihi: 2025
- Doi Numarası: 10.55697/tnd.2025.309
- Dergi Adı: Turk Noroloji Dergisi
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.359-361
- Anahtar Kelimeler: Children, Down syndrome, Duchenne muscular dystrophy
- Süleyman Demirel Üniversitesi Adresli: Evet
Özet
Down syndrome and Duchenne muscular dystrophy are not uncommon hereditary diseases in children. This case report presents a five-year-old male child with Down syndrome who exhibited elevated transaminase levels, hypotonia, proximal muscle weakness, and motor developmental delay. Genetic analysis confirmed a hemizygous duplication in exons 8-18 of the DMD gene, establishing the diagnosis of Duchenne muscular dystrophy. This rare coexistence highlights the importance of evaluating additional genetic disorders, particularly muscular dystrophies, in Down syndrome patients presenting with muscle weakness or elevated transaminase levels. Early diagnosis and a multidisciplinary approach are of critical importance.