• 대한한방소아과학회지
• /
• 제16권1호
• /
• pp.125-132
• /
• 2002

Spinal Muscular Atrophy(SMA) is characterized by degeneration of the anterior horn cells leading to symmetrical muscle weakness and wasting of voluntary muscles. Depending on the age of onset, the maximum muscular activity achieved, and survivorship, 3 types of SMA are recognized: SMA type I=Werdnig-Hoffman disease; SMA type II=an intermediate form; SMA type III = Wohlfart-Kugelberg-Welander disease. We report on a 10-month-old male patient with SMA type II complained cough and sputum. We treated with Bopejungchungtang for his cough and sputum. After administration of Bopejunchungtang cough and sputum decreased and almost disappeared.

• 대한한방소아과학회지
• /
• 제14권1호
• /
• pp.197-204
• /
• 2000

Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected-the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle-and then on the determination of the etiology and specific clinical entity. Spinal muscular atrophy(SMA) is the most common autosomal-recessive genetic disorder lethal to infants. The three major childhood-onset forms of SMA are now usually called type I, type II and typeⅢ. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis. Diagnosis is based on the course of the illness, as well as certain changes seen on nerve and muscle biopsy and electrodiagnostic studies. More recently, our understanding of the genetics of this disorder has provided a noninvasive approach to diagnosis. We report on a 3-year-old male patient with spinal muscular atrophy type II. He had progressive muscular weakness since 18 months of age. The upper arms were slightly, and the thighs moderately atrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. Electromyogram revealed a neurogenic pattern.

• Journal of Genetic Medicine
• /
• 제1권1호
• /
• pp.33-37
• /
• 1997

Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

• 재활복지공학회논문지
• /
• 제10권2호
• /
• pp.107-112
• /
• 2016

본 연구는 수중 경사로 보행 훈련이 제2형 척수성근위축증(spinal muscular atrophy type II) 아동의 넙다리네갈래근 활성화와 보행 및 일상생활동작에 미치는 영향을 알아보고자 하였다. 본 연구의 대상자는 만 5세의 제2형 척수성근위축증으로 진단받은 아동이었다. 본 연구는 단일 대상자 반전 연구 설계(A-B-A)를 이용하여 일주일에 3번 12회기 실행하였고 기초선 설정기간(A), 실험 적용기간(B), 관찰기간(A)으로 나누어 진행하였다. 기초선 설정기간, 관찰기간에서는 일반적인 수중 치료가 적용되었고 실험 적용기간에는 일반적인 수중 치료와 수중 경사로 보행훈련(60m 경사로 걷기)이 추가되었다. 제2형 척수성근위축증 환자의 보행에 큰 영향을 끼치는 넙다리네갈래근 활성화 측정을 위해 표면 근전도 검사가 실시되었고, 동적인 기능평가를 위해 일어나 걷기 검사와 일상생활 기능평가(ACTIVLIM)를 실시하였다. 그 결과 기초선 설정기간에 비해 실험 적용기간에서 넙다리네갈래근의 활성화가 감소하였고 보행 시간도 감소하였다. 일상생활 기능은 변화가 나타나지 않았다. 하지만, 관찰기간동안 다시 넙다리네갈래근의 활성화 증가, 보행시간 증가, 일상생활 기능 감소가 나타난 것으로 보아 수중 경사로 보행 훈련이 본 아동에게 기능적으로 영향을 끼쳤음을 알 수 있었다.