• 대한물리치료과학회지
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• 제2권3호
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• pp.633-643
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• 1995

A longitudinal study of self-concept and functional independence in 22 adolescents with progressive muscular dystrophy is reported. 30 adolescents with progressive muscular dystrophy completed Korean Self-Concept Scale, Modified Barthel Index, and a questionnaire examining demographic and medical factors. Functional independence was measured by Modified Barthel Index. Two years later, 22 of the 30 adolescents with progressive muscular dystrophy completed same Korean Self-Concept Scale and Modified Barthel Index. Adolescents with progressive muscular dystrophy were not changed on self -concept scores between test and retest. At retest adolescents with progressive muscular dystrophy scored significantly lower than at test on Modified Barthel Index. Compared to scale norms, subjects had significantly lower Total Self, Physical Self, Social Self, Self Satisfaction, Self Behavior scores. Age, years of education, and functional independence were significantly related self-concept. Functional independence was significantly related years of education.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.25-29
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• 2021

Myotonic muscular dystrophy is a disease characterized by progressive muscle weakness with myotonia and multiorgan involvement. Two subtypes have been recognized; each subtype is caused by nucleotide repeat expansion. So far, there has been no cure for myotonic muscular dystrophy. In this article, we introduce ongoing clinical trials for new drugs to modify disease course by correcting genetic derangement or its downstream in myotonic dystrophy type 1.

• Journal of Acupuncture Research
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• 제18권3호
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• pp.227-238
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• 2001

Objective : There was no report on the treatment of Fascioscapulohumeral (FSH) Muscular Dystrophy by Oriental medicine. But the treatment conducted on the patient admitted to the Sangji Oriental Medicine Hospital from January 9, 2001 to February 23, 2001, a significant treatment result was yielded and would like to suggest treatment plan for the future treatments. Methods : Under the assumption that Korean Bee-Venom Therapy may be affective for treating FSH Muscular Dystrophy, the following points were administered : SI10(노유), SI11(天宗), BL23(腎兪), BL26(關元兪), ST36(足三里), LI4(合谷), Liv3(太衝), SI9(肩貞). CFC(Carthami Flos;紅花 and Cervi Pantotrichum Cornu;鹿茸) herbal extract was treated on the other acupuncture points. Sa-Am(Four needle technique) Acupuncture (tonifying SI5 and ST42, sedating GB41 and ST43) was done every day. For herbal medicine, TaeEumIn ChoWiSeungChung-Tang was given based on the constitutional diagnosis. Results : After 7 weeks of treatment, a remarkable improvement was made for facial muscular movement and muscular strength of the scapular and another regions. Conclusions : 1. Significant improvement in the muscular strength for the case of FSH Muscular Dystrophy was obtained with through Korean Bee-Venom Therapy, Four needle technique, and herbal medication. 2. For progressive muscular dystrophy, it is necessary to practice muscular strength recovery exercise in conjunction with Korean Bee-Venom Therapy. 3. Although this case yielded favorable result, further observation and study must be made to concretely prove the effectiveness of Korean Bee-Venom Therapy for treating muscular dystrophies.

• 한국전문물리치료학회지
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• 제22권3호
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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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• 제3권1호
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• pp.1-8
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• 2001

The distal myopathies(DM) are clinically defined as inherited or sporadic primary muscle disorders characterized by progressive muscular weakness and atrophy beginning in the hands or feet and pathologically by myopathic changes in skeletal muscles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy(Miyoshi myopathy). At present, further study is necessary to determine why rimmed vacuoles are so common in the DM, and what role they play in the pathogenesis of muscle fiber atrophy and loss, predominantly in the distal portions of the extremities.

• The Korean Journal of Legal Medicine
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• 제42권4호
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• pp.159-163
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• 2018

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There are several types of muscular dystrophies classified according to the distribution of predominant muscle weakness including Duchenne and Becker, Emery-Dreifuss, facioscapulohumeral, oculopharyngeal, and limb-girdle type. Clinical manifestations of PMD are clumsy, unsteady gait, pneumonia, heart failure, pulmonary edema, hydropericardium, hydrothorax, aspiration, syncopal attacks, and sudden cardiac death. The deceased was a 34-year-old man, and the onset of the first clinical symptom, gait disturbance, was in his late teens. His elder brother had the same disease and experienced brain death after a head trauma and died after mechanical ventilation was discontinued. After an autopsy, we found contracture of the joints, pseudohypertrophy of the calf, wasting and fat replacement of the thigh muscle, pericardial effusion (80 mL), fibrosis and fat replacement of the cardiac ventricular wall, pulmonary edema, and froth in the bronchus. The cause of death was heart failure and dyspnea due to muscular dystrophy. There was no sign or suspicion of foul play in his death.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.94-98
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• 2013

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

• Journal of Interdisciplinary Genomics
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• 제1권1호
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• pp.1-5
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• 2019

Progressive weakness of skeletal muscle is the hallmark of muscular dystrophies. It is often accompanied by cardiomyopathy and respiratory insufficiency. It has generally been perceived as incurable diseases, while the advent of genetic therapy is changing the paradigm. Most research and achievements have been for the treatment of Duchenne muscular dystrophy, while it is promising to hope for therapies for other myopathies. Drugs for nonsense read-through and exon skipping are already approved for clinical use in Europe and the United States, respectively. Gene therapy using adeno-associated virus is in early phase of clinical trial. In this review, most promising genetic therapies will be briefly described.

• Annals of Clinical Neurophysiology
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• 제20권2호
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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.

• Annals of Clinical Neurophysiology
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• 제10권1호
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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.