📂 Diseases
hereditary spastic paraplegia 17 — Definition
kalıtsal spastik parapleji tip 17 / hereditary spastic paraplegia 17
The type of hereditary spastic paraplegia is a rare neurodegenerative disease, which affects the extensions of nerve cells (axes) and causes progressive muscle hardness (spastisite) and weakness in the legs. This type, which shows autozomal resesif inheritance, usually manifests in early childhood or puberty. The disease can lead to walking power in lower limbs, balance problems and muscle atrophy over time. This condition caused by mutations in the SPAST gene is characterized by dysfunction of the upper engine neurons.
Disease Definition
🔬 Disease Definition
Herediter spastik parapleji tip 17, BSCL2 gen mutasyonuna bağlı, alt ekstremitelerde ilerleyici spastisite ve güçsüzlükle karakterize nörodejeneratif bir hastalıktır. Otozomal dominant geçişlidir.
🧬 Causes & Risk Factors
BSCL2 genindeki mutasyonlar, seipin proteininin işlevini bozarak endoplazmik retikulum stresine ve motor nöron hasarına yol açar. Aile öyküsü en önemli risk faktörüdür.
🩺 Symptoms & Signs
Yürüme güçlüğü, bacaklarda spastisite, kas güçsüzlüğü, hiperrefleksi, ekstansör plantar yanıt ve ilerleyici paraparezi. Üst ekstremiteler genellikle korunur.
📋 Diagnostic Methods
Klinik muayene, aile öyküsü ve genetik testlerle (BSCL2 gen analizi) tanı konur. Manyetik rezonans görüntüleme ve elektromiyografi ayırıcı tanıda kullanılır.
💊 Treatment Options
Semptomatik tedavi: Baklofen, tizanidin gibi antispastik ilaçlar; fizik tedavi ve rehabilitasyon; ortez kullanımı. Botulinum toksini spastisiteyi azaltmada etkilidir.
⚠️ Complications
Düşmeler, kontraktürler, skolyoz, yorgunluk, mesane disfonksiyonu ve ilerleyici mobilite kaybı. Nadiren periferik nöropati gelişebilir.
Frequently Asked Questions
❓ What is kalıtsal spastik parapleji tip 17?
kalıtsal spastik parapleji tip 17; the type of hereditary spastic paraplegia is a rare neurodegenerative disease, which affects the extensions of nerve cells (axes) and causes progressive muscle hardness (spastisite) and weakness in the legs. This type, which shows autozomal resesif inheritance, usually manifests in early childhood or puberty. The disease can lead to walking power in lower limbs, balance problems and muscle atrophy over time. This condition caused by mutations in the SPAST gene is characterized by dysfunction of the upper engine neurons.
❓ What is hereditary spastic paraplegia 17 in Turkish?
The Turkish equivalent of "hereditary spastic paraplegia 17" is kalıtsal spastik parapleji tip 17.
❓ Which medical field is kalıtsal spastik parapleji tip 17 related to?
This term belongs to the Diseases category.