Slide 1
Teaching NeuroImages
A 54-year-old man with progressive muscle weakness, hand tremor,
tongue and perioral fasciculation
NeurologyResident and Fellow Section
2014 American Academy of NeurologyVignetteA 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 Neurology2Video
Rohani et al. 2014 American Academy of NeurologyVideo
Legend:Notice the phonatory breaks in voice quality consistent with
spasmodic dysphonia.3Spasmodic Dysphonia Preceding Idiopathic
Parkinsonism
Spinobulbar muscular atrophy or Kennedys 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 NeurologyREFERENCES:1. Ho
AK, Iansek R, Marigliani C, et al. Speech impairment in a large
sample of people with Parkinsons disease. Behav Neurol 1998;11:
131137. 4
