📂 Diseases
Ullrich congenital muscular dystrophy — Definition
Ullrich konjenital musküler distrofi / Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy is a rare genetic disease that occurs as a result of lack of collagen VI protein or dysfunction, showing autozomal resessive or dominant transition. It is characterized by pronounced muscle weakness, joint conmixture and dystal hypermobility during pregnancy or early babyhood. The disease progressive muscle weakness can lead to complications such as respiratory failure and scoliosis. Diagnosis, clinical findings, muscle biopsy and genetic tests.
Disease Definition
🔬 Disease Definition
Ullrich konjenital musküler distrofi, kollajen VI eksikliğine bağlı, erken başlangıçlı, progresif kas güçsüzlüğü ve distal eklem laksitesi ile karakterize nadir bir genetik hastalıktır. Otozomal resesif veya dominant kalıtılabilir.
🧬 Causes & Risk Factors
COL6A1, COL6A2 veya COL6A3 genlerindeki mutasyonlar kollajen VI sentezini bozar. Risk faktörleri arasında aile öyküsü ve akraba evliliği yer alır.
🩺 Symptoms & Signs
Doğumda veya erken bebeklikte başlayan proksimal kas güçsüzlüğü, distal eklemlerde hipermobilite, proksimal kontraktürler, tortikollis, skolyoz ve solunum yetmezliği görülür.
📋 Diagnostic Methods
Klinik bulgular, serum kreatin kinaz yüksekliği, kas biyopsisinde kollajen VI eksikliği ve genetik testlerle (COL6A1/2/3) tanı konur.
💊 Treatment Options
Spesifik tedavisi yoktur; fizik tedavi, solunum desteği (noninvaziv ventilasyon), ortopedik cerrahi (skolyoz) ve palyatif bakım uygulanır.
⚠️ Complications
Solunum yetmezliği, tekrarlayan pnömoni, skolyoz, kontraktürler ve kardiyak tutulum (nadir) görülebilir.
Frequently Asked Questions
❓ What is Ullrich konjenital musküler distrofi?
Ullrich konjenital musküler distrofi; ullrich congenital muscular dystrophy is a rare genetic disease that occurs as a result of lack of collagen VI protein or dysfunction, showing autozomal resessive or dominant transition. It is characterized by pronounced muscle weakness, joint conmixture and dystal hypermobility during pregnancy or early babyhood. The disease progressive muscle weakness can lead to complications such as respiratory failure and scoliosis. Diagnosis, clinical findings, muscle biopsy and genetic tests.
❓ What is Ullrich congenital muscular dystrophy in Turkish?
The Turkish equivalent of "Ullrich congenital muscular dystrophy" is Ullrich konjenital musküler distrofi.
❓ Which medical field is Ullrich konjenital musküler distrofi related to?
This term belongs to the Diseases category.