Madras motor neuron disease in Turkey


İŞAK B. , ULUÇ K. , Tanridag T. , Ozsahin S., Dengler R., Us O., ...Daha Fazla

AMYOTROPHIC LATERAL SCLEROSIS, cilt.10, ss.347-349, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10
  • Basım Tarihi: 2009
  • Doi Numarası: 10.3109/17482960802645016
  • Dergi Adı: AMYOTROPHIC LATERAL SCLEROSIS
  • Sayfa Sayıları: ss.347-349

Özet

We present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurological examination and laboratory investigations including genetic, radiological and electrophysiological evaluations were consistent with a juvenile-onset, predominantly bulbar, motor neuron disease with sensorineural hearing loss. The syndrome fulfilled the diagnostic criteria of Madras Motor Neuron Disease (MMND). Very few cases with MMND have been reported to date, and the majority are from south-eastern Asia. This is the first case reported from Turkey and indicates that the disease is not only regional but may also occur on the basis of rare de novo mutations.