A family with two different dystrophies

Koc F., Gulec H. R., Kelle B., Bisgin A.

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.36-40, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.36-40
  • Çukurova Üniversitesi Adresli: Evet

Özet

Myotonic dystrophy is the most common form of muscular dystrophy that begins in adulthood. It is characterized by progressive muscle wasting and weakness. Patient with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). Symptoms usually appear before age 20, but can begin in infancy or later in adulthood. Severity of the condition varies widely and some people remain asymptomatic. In this article, a family with two different dystrophies reported.