Teaching NeuroImages A 54-year-old man with progressive muscle weakness, hand tremor, tongue and perioral fasciculation Neurology Resident and Fellow Section © 2014 American Academy of Neurology

Vignette A 54-year-old man presented with a 10-year history of progressive gait difficulty, muscle weakness and fatigue. Examination revealed mild nasal speech, postural hand tremor, absence of deep tendon reflexes, atrophy and fasciculation in tongue, facial (perioral), and limbs’ muscles, and gynecomastia. Nerve conduction studies were normal, however, needle electromyography demonstrated a neurogenic pattern with spontaneous activity (fibrillation, positive sharp wave and fasciculation) in cranial and limbs’ muscles. Genetic testing confirmed CAG expansion of the androgen receptor gene on X chromosome. Rohani et al. © 2014 American Academy of Neurology

Video Rohani et al. © 2014 American Academy of Neurology

Spasmodic Dysphonia Preceding Idiopathic Parkinsonism Spinobulbar muscular atrophy or Kennedy’s disease is an X- linked adult onset degenerative disorder of motor neurons caused by expansion of CAG repeat in androgen receptor gene on X chromosome. The main clinical features are bulbar signs, lower motor neuron involvement (muscle weakness and fasciculations, postural tremor of hands, absence of deep tendon reflexes, sometimes sensory disturbances and endocrine abnormalities such as gynecomastia and infertility (1,2). The gold standard for diagnosis is genetic testing (CAG repeat number more than 40). Rohani et al. © 2014 American Academy of Neurology