ABSTRACT
We present the case of a 37-year-old Afghani man with a history of childhood diphtheria, who was diagnosed with bilateral vocal cord paralysis at age 15 years. At about this time he developed progressive muscular wasting and distally predominant weakness, and subsequently developed respiratory insufficiency, necessitating nocturnal ventilatory support. His examination suggested a distal symmetric sensorimotor neuropathy, and his brother was similarly affected, although to a lesser degree. Electromyography (EMG) and nerve conduction studies revealed this process to be purely axonal. A diagnosis of possible hereditary motor and sensory neuropathy (HMSN) type IIc, hereditary axonal polyneuropathy with vocal cord paralysis, is proposed, although the question of early diphtheritic involvement of the vocal cords and peripheral nerves is also considered.
Subject(s)
Diphtheria/pathology , Neuromuscular Diseases/genetics , Neuromuscular Diseases/pathology , Vocal Cord Paralysis/genetics , Vocal Cord Paralysis/pathology , Adult , Diphtheria/complications , Electromyography , Humans , Male , Muscle Weakness/pathology , Muscular Atrophy/pathology , Neural Conduction/physiology , Neuromuscular Diseases/complications , Neurons, Afferent/physiology , Respiratory Function Tests , Vocal Cord Paralysis/complicationsABSTRACT
We report limitation of gaze and slow saccadic eye movements by clinical examination and video-oculography in a patient with Becker muscular dystrophy. This rare association suggests that a dystrophinopathy should be considered in a patient with features characteristic of Becker muscular dystrophy even when mild impairment of eye movements is present.
Subject(s)
Muscular Dystrophies/physiopathology , Oculomotor Muscles/physiopathology , Saccades , Adult , Edrophonium , Humans , Male , Oculomotor Muscles/physiology , Parasympathomimetics , Reference Values , Visual FieldsABSTRACT
Of 459 consecutive teenage patients seen for psychiatric evaluations in a general hospital emergency room during a 1-year period, 76 (17%) had blood alcohol levels over 100 mg/dl. Males and females were represented equally in this group. The most common DSM-III diagnoses in these patients were affective disorders and conduct disorders.