• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1295-1299
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• 2008

Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

• Physical Therapy Korea
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• v.22 no.3
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

• Annals of Clinical Neurophysiology
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• v.12 no.1
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• pp.27-31
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• 2010

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

• Annals of Clinical Neurophysiology
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• v.20 no.2
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• pp.89-92
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• 2018

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

• Journal of The Korean Dental Society of Anesthesiology
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• v.4 no.2 s.7
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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.

• Annals of Clinical Neurophysiology
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• v.12 no.2
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• pp.73-75
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• 2010

• Journal of the korean academy of Pediatric Dentistry
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• v.40 no.1
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• pp.66-71
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• 2013

Muscular dystrophy is a genetically heterogeneous group of disorders characterized by progressive muscle weakness of variable distribution and severity. Fukuyama type congenital muscular dystrophy (FCMD) is an unusual form of muscular dystrophy with autosomal recessive inheritance and is clinically characterized by an early age of onset, severe central nervous system involvement, facial muscle weakness, and multiple joint contractures. Muscular dystrophy is susceptible to perioperative respiratory, cardiac and other complications. Patients with FCMD have upper airway muscle weakness, therefore general anesthesia is preferred to sedation regarding maintaining the airway when treating these patients. The development of malignant hyperthermia in general anesthesia for patients with muscular dystrophy is a concern. Total intravenous anesthesia should be used instead of inhaled anesthetics because of the risk of malignant hyperthermia. A 3-year-9-month old, 13kg girl with Fukuyama type congenital muscular dystrophy was scheduled for dental treatment under general anesthesia. She had multiple caries and 14 primary teeth needed caries treatment. Prior to general anesthesia, oral premedication with 9 mg midazolam was given. General anesthesia was induced and maintained with target controlled infusion of propofol $3{\sim}3.5{\mu}g/mL$. The patient with progressive muscular dystrophy was successfully treated under total intravenous anesthesia with a target controlled infusion of propofol. There were no complications related to anesthesia and dental treatment during or after the operation. This case suggests that target controlled infusion of propofol is a safe and appropriate anesthetic technique in FCMD patients for dental treatment.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.17 no.1
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• pp.279-286
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• 1987

The authors observed a patient who referred to the Department of Oral Radiology, due to diffuse skeletal pain, muscular weakness and unknown tumor mass on the buccal gingiva of upper right molar region. The patient was found to have peripheral reparative giant cell granuloma and osteomalacia. After removal of the tumor, the clinical, radiologic, and laboratory findings of the patient was rapidly normalized with remarkable improvement of bone pain. The results were as follows: 1. After removal of the tumor, the patient improved. the clinical findings such as bone pain, trismus. muscular weakness and he could walk. 2. In postoperative x-ray findings at 1 and 2 months intervals, the lamina dura of all dentition and bony trabeculae in upper and lower arches were regenerating and the bone density increased. 3. In periodic recall check, no occurrence of osteomalacia was existed and the laboratory findings of the patient showed gradual improvement.

• International Journal of Industrial Entomology and Biomaterials
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• v.5 no.1
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• pp.109-122
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• 2002

The purpose of this investigation is to evaluate the effects of the Nuegra on enhancement of the masculine and physical activities in general through measuring changes of the testosterone, FSH and subjective symptoms like fatigue, insomnia, urinary stream, muscular weakness, libido and erectile dysfunction. Total 168 male subjects were enrolled from 12 urology, internal medicine clinics and general practitioner, During the 6-week investigational period, 2 capsules of Nuegra were given to the subjects right after meal for 4 weeks, and 1 capsule of Nuegra was added each time in subjects with no or minimal effect. Testoster-one and FSH levels were measured at first visit and last visit, for evaluating masculine activities. To avoid bias and standardize the test results, only one clinic was assigned as a central lab, and all blood samples were transferred. General information and subjective symptoms were evaluated at first visit and at 2 weeks interval, week 2, 4 and 6 using VAS (Visual Analogue Scale). The mean age of the subjects were 51.8${\pm}$8.2 years old (range: 36.1-82.1). Based on the subjects who were tested on testosterone and FSH levels at day l and week 6, the means were 4.4${\pm}$1.4 nmol/L (range: 2.6-7.7), 8.6${\pm}$9.6 mIU/mL (range: 0.3-40.4), respectively at day 1. At week 6, the results were 4.9 ${\pm}$1.6 (2.6-8.9 range), 9.4${\pm}$13.1 (1.0-53.9 range), respectively. Marginally significant difference between pre-dose and post-dose was present. Statistically significant differences were revealed in general assessment for subjective symptoms, fatigue, insomnia, erectile dysfunction, etc. In fatigue, response rates were 39.6, 65.4 and 76.4% at week 2, 4 and 6, respectively (P < 0.0001). Response vates for erectile dysfunction were 13.4, 41.2 and 72.7% at week 2, 4, and 6 (P < 0.0001), respectively, Response rates for libido were 13.6, 51.6 and 73.5% at week 2, 4, and 6 (P < 0.0001), respectively. For urinary stream response rates were 26.9, 44.7 and 66.8% at week 2, 4, and 6 (P < 0.0001), respectively. VAS for muscular weakness did not show significant results that response rates were 40, 60 and 80% at week 2, 4, and 6 from 8.2 (P ＝ 0.24), respectively. Response rates for insomnia were 50, 60, 100% at week 2, 4, and 6 (P < 0.0001), respectively. The results shows that Nuegra tends to enhance masculine activities including libido, erectile dysfunction and urinary stream and also effective for improving general conditions especially insomnia, muscular weakness and fatigue. In conclusion, this investigation has demonstrated that Nuegra does not only have tendency to increase masculine activities through increased secretion of the testosterone and FSH but also improve general conditions such as erectile dysfunction, libido, fatigue and muscular power.

• Annals of Clinical Neurophysiology
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• v.10 no.1
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• pp.66-69
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• 2008

Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.