A TWO YEAR OLD GIRL WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

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A TWO YEAR OLD GIRL WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology

Vignette This is a two year-olf girl with progressive weakness and hypotonia since birth. Deep tendon reflexes are absent. Her tongue presents very frequent fasciculations. Good eye contact, and normal cognition. Montenegro MA © 2014 American Academy of Neurology

Imaging Montenegro MA © 2014 American Academy of Neurology

Tongue Fasciculations in Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is a heterogeneous, autosomal-recessive neuromuscular disorder. It affects the lower motor neurons. It is characterized by loss of the anterior horn cells in the spinal cord and cranial nerves nuclei. Patients present weakness and muscle wasting. Fasciculations are usually present, especially in the tongue (see video). Montenegro MA © 2014 American Academy of Neurology