📂 Diseases
hereditary spastic paraplegia 9A — Definition
Kalıtsal Spastik Parapleji 9A / hereditary spastic paraplegia 9A
Calıtsal Spastik Paraplegia 9A is a rare neurological disease, characterized by progressive degeneration of motor neurons in omurilik, autosomal dominant transition. The disease often manifests itself with spasticity, muscle weakness and walking power in lower limbs. Symptoms often begin during childhood or early adulthood and aggravates over time. This form is associated with mutations in the ALDH3A2 gene and can also be classified as a variant of the Sjögren-Larsson syndrome.
Disease Definition
🔬 Disease Definition
Herediter spastik parapleji tip 9A (HSP9A), ALDH18A1 genindeki mutasyonlardan kaynaklanan, alt ekstremitelerde ilerleyici spastisite ve güçsüzlük ile karakterize nadir bir nörodejeneratif hastalıktır.
🧬 Causes & Risk Factors
ALDH18A1 genindeki otozomal resesif mutasyonlar, prolin sentezinde rol oynayan delta-1-pirolin-5-karboksilat sentetaz enziminin işlevini bozar.
🩺 Symptoms & Signs
Yürüme güçlüğü, bacaklarda spastisite, kas güçsüzlüğü, hiperrefleksi, ekstansör plantar yanıt, bazen hafif duyu kaybı ve mesane disfonksiyonu.
📋 Diagnostic Methods
Klinik değerlendirme, aile öyküsü, nörolojik muayene, manyetik rezonans görüntüleme (MRG) ve ALDH18A1 genetik testi ile konur.
💊 Treatment Options
Semptomatik tedavi: Fizik tedavi, spastisite için baklofen veya botulinum toksini, güçsüzlük için yardımcı cihazlar; hastalığı durdurucu spesifik bir tedavi yoktur.
⚠️ Complications
İlerleyici sakatlık, kontraktürler, düşme riski, mesane enfeksiyonları, psikososyal etkiler.
Frequently Asked Questions
❓ What is Kalıtsal Spastik Parapleji 9A?
Kalıtsal Spastik Parapleji 9A; calıtsal Spastik Paraplegia 9A is a rare neurological disease, characterized by progressive degeneration of motor neurons in omurilik, autosomal dominant transition. The disease often manifests itself with spasticity, muscle weakness and walking power in lower limbs. Symptoms often begin during childhood or early adulthood and aggravates over time. This form is associated with mutations in the ALDH3A2 gene and can also be classified as a variant of the Sjögren-Larsson syndrome.
❓ What is hereditary spastic paraplegia 9A in Turkish?
The Turkish equivalent of "hereditary spastic paraplegia 9A" is Kalıtsal Spastik Parapleji 9A.
❓ Which medical field is Kalıtsal Spastik Parapleji 9A related to?
This term belongs to the Diseases category.