📂 Diseases
hereditary spastic paraplegia 43 — Definition
herediter spastik parapleji tip 43 / hereditary spastic paraplegia 43
Hereditary spastic paraplegia type 43 is a rare neurodegenerative disease characterized by progressive muscle hardness and weakness in lower limbs. Otozomal shows resesif inheritance and usually begins during childhood or puberty. The disease leads to walking power, spastisite and hyperreflection as a result of degeneration of corticospinal paths in.. In addition, in some cases, peripheral neuropathic, fine motor skills disorders and light cognitive effects can be seen.
Disease Definition
🔬 Disease Definition
Herediter spastik parapleji tip 43, C19orf12 geni mutasyonlarına bağlı otozomal resesif geçişli nörodejeneratif bir hastalıktır. Alt ekstremitelerde ilerleyici spastisite ve güçsüzlük ile karakterizedir.
🧬 Causes & Risk Factors
C19orf12 genindeki mutasyonlar mitokondriyal fonksiyon bozukluğuna yol açar. Otozomal resesif kalıtım gösterir; ebeveynler taşıyıcıdır.
🩺 Symptoms & Signs
Erken çocuklukta başlayan yürüme güçlüğü, alt ekstremitelerde spastisite, hiperrefleksi, ekstansör plantar yanıt. Zamanla üst ekstremite tutulumu, dizartri ve hafif kognitif bozukluk gelişebilir.
📋 Diagnostic Methods
Klinik değerlendirme, aile öyküsü ve nörolojik muayene. Tanı C19orf12 geni sekanslama ile doğrulanır. MRG'de ince korpus kallozum görülebilir.
💊 Treatment Options
Semptomatik tedavi: baklofen, tizanidin gibi antispastik ilaçlar; fizik tedavi ve rehabilitasyon; ortez kullanımı. İleri vakalarda intratekal baklofen pompası düşünülebilir.
⚠️ Complications
Yürüme kaybı, kontraktürler, skolyoz, üriner aciliyet, depresyon ve anksiyete.
Frequently Asked Questions
❓ What is herediter spastik parapleji tip 43?
herediter spastik parapleji tip 43; hereditary spastic paraplegia type 43 is a rare neurodegenerative disease characterized by progressive muscle hardness and weakness in lower limbs. Otozomal shows resesif inheritance and usually begins during childhood or puberty. The disease leads to walking power, spastisite and hyperreflection as a result of degeneration of corticospinal paths in.. In addition, in some cases, peripheral neuropathic, fine motor skills disorders and light cognitive effects can be seen.
❓ What is hereditary spastic paraplegia 43 in Turkish?
The Turkish equivalent of "hereditary spastic paraplegia 43" is herediter spastik parapleji tip 43.
❓ Which medical field is herediter spastik parapleji tip 43 related to?
This term belongs to the Diseases category.