A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report.
- Author:
Hyoung Seop KIM
1
;
Sang Chul LEE
;
Soo Kyoung CHO
;
Yong Bum PARK
;
Soo Hyun LEE
;
Jae Ho MOON
;
Yoon Ghil PARK
Author Information
1. Department of Rehabilitation Medicine and Rehabilitation Institute of Muscular Disease, Yonsei University College of Medicine, Korea. drtlc@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Motor neuron disease;
Proximal spinal muscular atrophy type III;
Survivor motor neuron gene
- MeSH:
Anterior Horn Cells;
Atrophy;
Biopsy;
Denervation;
Diagnosis, Differential;
Extremities;
Gene Deletion;
Humans;
Motor Neuron Disease;
Motor Neurons;
Muscle Weakness;
Muscular Atrophy;
Muscular Atrophy, Spinal*;
Muscular Diseases;
Muscular Dystrophies;
Neuronal Apoptosis-Inhibitory Protein;
Survivors
- From:Journal of the Korean Academy of Rehabilitation Medicine
2007;31(1):113-118
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb gir-dle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases.
