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

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

• Journal of Genetic Medicine
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• 제17권2호
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• pp.55-61
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• 2020

Spinal muscular atrophy (SMA) is a neuromuscular disease that requires multidisciplinary medical care, including rehabilitation management. The emergence of a genetic therapy-based approach for SMA has markedly changed the disease course. Nonetheless, currently, updated physical therapy and rehabilitation are warranted for individuals with SMA in the era of gene therapy. In this review, we discuss the physical therapy and rehabilitation strategies currently performed for people with SMA, such as positioning and bracing, supported standing, management of musculoskeletal deformities, stretching, physical exercise training like aerobics and strengthening exercises, assistive devices, pulmonary rehabilitation, and dysphagia treatment.

• 대한치과마취과학회지
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• 제4권2호
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• pp.100-103
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• 2004

Spinal muscular atrophies are inherited neurodegenerative disorders affecting anterior hem cells. There are various problems, especially weakness of respiratory muscle and abnormal reaction to muscle relaxants during the general anesthesia. And gingival hyperplasia can make the proper airway management difficult. Experience with anesthetic management in a patient with spinal muscular atrophy combined with gingival hyperplasia has been very rare. We report the anesthetic experience of a wheel-chair-bound child, who underwent gingivectomy under general anesthesia. The child was safely managed with fibroscopic nasotracheal intubation under sevoflurane without muscle relaxants. Also, there was no deterioration of her underlying neurologic conditions.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권2호
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• pp.137-140
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• 2016

Spinal muscular atrophy (SMA) is an autosomal recessive, severe neuromuscular disorder in which degeneration of alpha motor neurons in the spine progressively weakens and ultimately paralyzes the proximal muscles. It occurs in one per 6,000-10,000 infants, and is a genetic disorder with the second-highest mortality rate worldwide. An 18-year-old male patient with SMA was referred for general anesthesia for difficulty in performing dental treatment due to limited mouth opening caused by temporomandibular joint (TMJ) pain. However, the patient had a high risk of general anesthesia complications, so TMJ pain during mouth opening was reduced through local anesthesia of the TMJ. Fortunately, the anesthesia was successful in reducing pain during mouth opening, enabling the patient to receive dental treatment with an adequate mouth opening.

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

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2005년도 제49차 추계학술대회
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• pp.110-110
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• 2005

• Annals of Clinical Neurophysiology
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• 제17권1호
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• pp.1-16
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• 2015

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies have been tested in ALS, but so far only Riluzole has shown efficacy of slightly slowing disease progression. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. Other motor neuron disease such as spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA) are also progressive neurodegenerative disease with loss of motor neuron as ALS. This common thread of motor neuron loss has provided a target for the development of therapies for these motor neuron diseases. A better understanding of these pathogenic mechanisms and the potential pathological relationship between the various cellular processes have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.

• Clinical and Experimental Pediatrics
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• 제53권11호
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• pp.965-970
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• 2010

Purpose: The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported. In this study, we analyzed the natural courses and survival statistics of SMA type I patients and compared the clinical characteristics of the patients based on their survival periods. Methods: We reviewed the medical records of 14 pediatric patients diagnosed with SMA type I during a 9-year period. We examined the demographic and clinical characteristics of these patients, calculated their survival probabilities, and plotted survival curves as on the censoring date, January 1, 2010. We also compared the characteristics of the patients who died before the age of 24 months (early-death, ED group) and those who survived for 24 months or longer (long-survival, LS group). Results: The mean survival time was $22.8{\pm}2.0$ months. The survival probabilities at 6 months, 12 months, 18 months, 24 months, and 30 months were 92.9%, 92.9%, 76.0%, 76.0%, and 65.1%, respectively. Birth weight was the only factor that showed a statistically significant difference between the ED and LS groups ($P$=0.048). Conclusion: In this study, the survival probabilities at 2 years were far greater than expected. Because of the limited number of patients and information in this study, the contribution of improved supportive care on longer survival could not be clarified; this may be elucidated in larger cohort studies.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1350-1354
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• 2008

척수성 근위축증은 상염색체 열성으로 유전되며 사지 및 몸통 근위부와 원위부의 광범위한 근력약화를 특징으로 한다. 5번 염색체 장완(5q11.2-13.3)에 위치한 survival motor neuron (SMN) 유전자의 결손이 그 원인이다. 척수성 근위축증은 순수하게 운동신경만 침범하는 것으로 알려져 있다. 분자유전학적 방법으로 유전자의 결손을 증명하므로써 진단할 수 있다. 저자들은 아주 이른 영아시기부터 심한 근긴장도 저하와 잦은 폐흡인을 보였고, 분자 유전학적 검사로 척수성 근위축증을 진단한 2명의 환아에서 신경전도 검사상 광범위한 감각신경을 침범한 경우를 경험하여 보고하는 바이다. 본 증례는 감각 신경을 침범한 척수성 근위축증에 대해 국내에서는 첫번째 보고로 생각한다.