6 結果
Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may
A 67-year-old female presented to our institution with a progressive history of hoarseness for the past six months. The patient also referred shoulder weakness and cough during the same period of time. She denied weight loss and tobacco use. Past medical history was negative for squamous cell
We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross-referenced with clinical records of patients admitted to a GH (May 2011-July 2017), were reviewed for diagnosis of BB. Thirteen patients (age range 23-64 years;
To determine whether the Voice Handicap Index-10 (VHI-10) predicts diagnoses made via laryngoscopy/stroboscopy, as compared to common clinical inquiries about vocal characteristics.We prospectively collected data from a cohort of 204 consecutive patients Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty
BACKGROUND
The entity of hindbrain herniation without myelodysplasia in the very young child has been poorly described. A retrospective analysis of children diagnosed with Chiari I malformation (CM I) before their sixth birthday is presented.
METHODS
Since 1985, 31 children with CM I (0.3-5.8) years