title: Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report.
abstract: Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein. The clinical symptoms of SMA are progressive proximal muscle weakness and paralysis. Here we describe a 20-year-old Turkmenistan male with SMA who presented with uncommon pathological reflexes and asymmetric onset of weakness. The diagnosis after genetic analysis revealed a homozygous deletion of SMN1 exons seven and eight. The copies of SMN2 exon seven were normal. Although pyramidal signs are not a common symptom of SMA, they could not be used to exclude the diagnosis of SMA in a patient with neuromuscular degenerative symptoms. Therefore, an additional attention is warranted to SMA patients with pathological reflexes.
authors.affiliation: Department of Neurology, Qingdao Municipal Hospital, Shandong, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wan
authors.affiliation: Department of Neurology, Peking University People's Hospital, Beijing, China. iioo_099@163.com.
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
mesh_terms: D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000473:pathology*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D055532:SMN Complex Proteins / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D044465:White People; D055815:Young Adult
chemical_list: D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein
keywords:  amyotrophic lateral sclerosis;  pyramidal sign; spinal muscular atrophy