A rare genetic ataxia: cerebrotendinous xanthomatozis Nadir görülen bir genetik ataksi: serebrotendinoz Ksantomatozis
Pamukkale Medical Journal, cilt.13, sa.1, ss.225-228, 2020 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 1
- Basım Tarihi: 2020
- Doi Numarası: 10.31362/patd.537041
- Dergi Adı: Pamukkale Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.225-228
- Anahtar Kelimeler: Ataxia, cerebrotendinous xanthomatosis, drop foot, rehabilitation
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Cerebrotendinous xanthomatosis (CTX) is a rare and treatable lipid storage disease. It is one of the causes of adult onset ataxia. Clinical findings include persistent infantil diarrhea, cataracts in adolescent, tendon xanthomas and neurologic disorders such as ataxia, seizures, personality changes in adulthood. 37 years old woman, diagnosed CTX 6 years ago, complained of balance loss and walking difficulty. Bilateral lower extremities were assessed with manual muscle testing and muscles strength were 4/5. She had bilateral lower extremity achilles clonus. Drop foot was observed when walking. We planned a rehabilitation program for balance and walking ability. Bilateral lower extremities strengthening program was performed. Foot-up ortheses were suggested for drop foot. Lower extremity clonus was stopped with baclofen 30 mg/day oral medication. Most of patients are diagnosed after the symptoms had started. It is believed the progression was stopped by the therapy. Personalized rehabilitation programs can improve functions and quality of life of this patients. In this case we shared the rehabilitation process of our patient with CTX.