📂 Diseases
hereditary spastic paraplegia 46 — Definition
Kalıtsal spastik parapleji tip 46 / hereditary spastic paraplegia 46
Calditional spastic paraplegia type 46 is a rare neurodegenerative disease, which causes progressive muscle hardness (spastisite) and weakness in lower limbs. Otozomal indicates resessive inheritance and usually begins during childhood or early adulthood. The disease is characterized by walking power, muscle cramps and increased spastisite over time. The upper limbs and speech are often not affected, but slight cognitive disorder can be seen in some cases.
Disease Definition
🔬 Disease Definition
Herediter spastik parapleji tip 46 (HSP46), NIPA1 genindeki mutasyonlardan kaynaklanan, alt ekstremitelerde ilerleyici spastisite ve güçsüzlük ile karakterize nadir bir nörodejeneratif hastalıktır.
🧬 Causes & Risk Factors
NIPA1 genindeki otozomal dominant mutasyonlar, magnezyum taşınmasını bozarak motor nöron dejenerasyonuna yol açar.
🩺 Symptoms & Signs
Yürüme güçlüğü, bacaklarda spastisite, hiperrefleksi, ekstansör plantar yanıt, ilerleyici kas güçsüzlüğü, hafif duyu kaybı ve mesane disfonksiyonu.
📋 Diagnostic Methods
Klinik değerlendirme, aile öyküsü, nörolojik muayene, manyetik rezonans görüntüleme (MRG) ve NIPA1 genetik testi ile doğrulanır.
💊 Treatment Options
Semptomatik tedavi: baklofen, tizanidin gibi antispastik ilaçlar, fizik tedavi, ortez kullanımı ve botulinum toksini enjeksiyonları. Hastalık modifiye edici tedavi yoktur.
⚠️ Complications
Kontraktürler, düşme riski, osteoporoz, kronik ağrı, yorgunluk ve ileri evrede tekerlekli sandalye bağımlılığı.
Frequently Asked Questions
❓ What is Kalıtsal spastik parapleji tip 46?
Kalıtsal spastik parapleji tip 46; calditional spastic paraplegia type 46 is a rare neurodegenerative disease, which causes progressive muscle hardness (spastisite) and weakness in lower limbs. Otozomal indicates resessive inheritance and usually begins during childhood or early adulthood. The disease is characterized by walking power, muscle cramps and increased spastisite over time. The upper limbs and speech are often not affected, but slight cognitive disorder can be seen in some cases.
❓ What is hereditary spastic paraplegia 46 in Turkish?
The Turkish equivalent of "hereditary spastic paraplegia 46" is Kalıtsal spastik parapleji tip 46.
❓ Which medical field is Kalıtsal spastik parapleji tip 46 related to?
This term belongs to the Diseases category.