Hereditary neuropathy: Delayed diagnosis and increased disability (Case report and review of literature) Herediter nöropati: Gecikmiş tani ve artmiş dizabilite (Olgu sunumu ve literatür gözden geçirimi)


GENÇ H., NACIR B., Özdemirel A. E., Erdem H. R.

Journal of Rheumatology and Medical Rehabilitation, cilt.20, sa.1, ss.19-26, 2009 (Scopus)

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 20 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: Journal of Rheumatology and Medical Rehabilitation
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.19-26
  • Anahtar Kelimeler: Diagnosis, Disability evaluation, Hereditary motor and sensory neuropathies, Rehabilitation
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Hereditary neuropathies are characterised by segmental demyelination and remyelination in the peripheral nerves which result in marked slowing of nerve conduction. The diseases are inherited and progressive, usually at slow rate. Misdiagnosis may be possible because of slow progression, and improper treatment may be performed for patients with hereditary neuropathies resulting with disability. We reported here a patient with hereditary sensorimotor neuropathy who became disable for walking and other daily living activities because of delayed diagnosis, and we reviewed the literature concerning hereditary neuropathies and rehabilitation methods. Copyright © 2009 by Türk Tibbi Rehabilitasyon Kurumu Derneĝi.