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Type I Spinal Muscular Atrophy Can Mimic Sensory-Motor Axonal Neuropathy

Division of Pediatric Neurology Montreal Children's Hospital Departments of Neurology and Neurosurgery McGill University

Steven P. Miller, MD CM FRCPC

Division of Pediatric Neurology Montreal Children's Hospital Departments of Neurology and Neurosurgery McGill University

Marie-Christine Guiot, MD, FRCPC

Department of Neuropathology Montreal Neurological Institute McGill University

George Karpati, FRCPC

Departments of Neurology and Neurosurgery Montreal Neurological Institute McGill University

Louise Simard, MD, FRCPC

Department of Pediatrics Université de Montreal Hôpital Ste. Justine

Marie-Emmanuelle Dilenge, MD, FRCPC

Division of Pediatric Neurology Montreal Children's Hospital Departments of Neurology and Neurosurgery McGill University

Michael I. Shevell, MD CM, FRCPC

Division of Pediatric Neurology Montreal Children's Hospital Departments of Neurology, Neurosurgery, and Pediatrics McGill University Montreal, Quebec, michael.shevell{at}muhc.mcgill.ca.

Spinal muscular atrophy is a group of allelic autosomal recessive disorders characterized by progressive motoneuron loss, symmetric weakness, and skeletal muscle atrophy. It is traditionally considered a pure lower motoneuron disorder, for which a current definitive diagnosis is now possible by molecular genetic testing. We report two newborns with a clinical phenotype consistent with that of spinal muscular atrophy type I and nerve conduction studies and electromyography suggesting more extensive sensory involvement than classically described with spinal muscular atrophy. Molecular testing confirmed spinal muscular atrophy in patient 1 but not in patient 2. Thus, in the setting of a suspected congenital axonal neuropathy, molecular testing might be necessary to distinguish spinal muscular atrophy type I from infantile polyneuropathy. (J Child Neurol 2005;20:147—150).

Journal of Child Neurology, Vol. 20, No. 2, 147-150 (2005)
DOI: 10.1177/08830738050200022101


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