title: Madras motor neuron disease in Turkey.
abstract: 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.
authors.affiliation: Department of Neurology, Marmara University Hospital, Altunizade-Uskudar, Istanbul, Turkey. mbisak@yahoo.com
authors.forename: Baris
authors.initials: B
authors.lastname: Isak
authors.forename: Kayihan
authors.initials: K
authors.lastname: Uluc
authors.forename: Tulin
authors.initials: T
authors.lastname: Tanridag
authors.forename: Selda
authors.initials: S
authors.lastname: Ozsahin
authors.forename: Reinhard
authors.initials: R
authors.lastname: Dengler
authors.forename: Onder
authors.initials: O
authors.lastname: Us
authors.forename: Susanne
authors.initials: S
authors.lastname: Petri
mesh_terms: D019054:Evoked Potentials, Motor; D005260:Female; D006801:Humans; D007223:Infant; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology*; D014421:Turkey; D055815:Young Adult