| Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves |
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Ran Lee1, Sochung Chung1, Sung-Eun Koh2, In Kyu Lee3, Jongmin Lee2 |
1Departments of Pediatrics, Konkuk University School of Medicine
2Departments of Rehabilitation, Konkuk University School of Medicine
3Department of Pediatrics, Soonchunhyang University, College of Medicine |
| 광범위한 감각신경 침범을 동반한 척수성 근위축증 2예 |
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이 란1, 정소정1, 고성은2, 이인규3, 이종민2 |
1건국대학교 의학전문대학원 소아청소년과
2건국대학교 의학전문대학원 재활의학과
3순천향의대 소아청소년과 |
Correspondence:
Ran Lee, Email: leeran67@kuh.ac.kr
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| Abstract |
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Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe hypotonia and frequent aspirations at early infancy. Nerve conduction studies showed more extensive sensory involvement in these patients diagnosed to have SMA by genetic study than in classical cases of SMA. To the best of our knowledge, this is the first report of SMA Type 1 with sensory nerve involvement in Korea. |
| Key Words:
Spinal muscular atrophy, Sensory nerve |
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