Tongue fasciculations in an infant with spinal muscular atrophy type 1
نویسندگان
چکیده
Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.
منابع مشابه
Teaching video NeuroImages: tongue fasciculations in spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a heterogeneous, autosomal-recessive neuromuscular disorder affecting 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 on the Neurology® Web site at Neurology.org). Alth...
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2015