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

• Korean Journal of Poultry Science
• /
• v.38 no.2
• /
• pp.145-154
• /
• 2011

By a series of positional cloning, we successfully narrowed down the AM candidate region to approximately 1.2 Mbp on GGA2q including 7 functional genes. Subsequently, we identified WWP1 gene as the most likely AM candidate by sequence comparison. The amino acid sequence around the candidate mutation was highly conserved among tetrapods, suggesting that WWP1 is the causative gene of chicken muscular dystrophy. Transfection of mutated WWP1 gene into $C_2C_{12}$ myoblasts disrupted muscle differentiation process. The abnormal muscle differentiation is a characteristic of chicken muscular dystrophy, so we could demonstrate a part of phenotype of the disease. Furthermore, western blotting revealed that accumulation of caveolin-3 protein is limited in damaged muscle of muscular dystrophic chicken, suggesting caveolin-3 may be associated with the pathological change of the disease. We could conclude that WWP1 gene is the responsible one for chicken muscular dystrophy from these results, but the mechanism leading the onset should be clarified in the future. The information will contribute to the study of chicken muscular dystrophy and the corresponding human dystrophies.

• Annals of Clinical Neurophysiology
• /
• v.14 no.2
• /
• pp.53-58
• /
• 2012

For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are now understood with discrete molecular pathogeneses. We are facing an exciting era that the long-waited gene therapy may eventually come true. Skipping of dystrophin exon 51 is on successful clinical trials, which will benefit about 13% of the children suffering from Duchenne muscular dystrophy. Exon skipping is under active investigation to expand the candidates. Hopefully it may cover majority of Duchenne muscular dystrophy mutations and some of other diseases. Adeno-associated virus is one of the most versatile tools for gene transfer. It may overcome the limitation of exon skipping. Here we review exon skipping technique of Duchenne muscular dystrophy and briefly discuss the other strategies being studied to cure inherited muscle diseases.

• Journal of Interdisciplinary Genomics
• /
• v.3 no.2
• /
• pp.25-29
• /
• 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 Genetic Medicine
• /
• v.10 no.2
• /
• pp.94-98
• /
• 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.

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

• Annals of Clinical Neurophysiology
• /
• v.3 no.1
• /
• pp.1-8
• /
• 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.

• Annals of Clinical Neurophysiology
• /
• v.6 no.2
• /
• pp.65-74
• /
• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• The Korean Journal of Legal Medicine
• /
• v.42 no.4
• /
• pp.159-163
• /
• 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 Acupuncture Research
• /
• v.22 no.6
• /
• pp.241-249
• /
• 2005

Objectives : The purpose of this case is to report the improvement after treatment about patient with Reflex sympathetic dystrophy syndrome. Methods : We treated the patient with acupuncture therapy and Herbal medication from 12th October 2004 to 20th June 2005 by evaluating shoulder function with VAS score, shoulder joint ROM and mannual muscle test(MMT). Results : After treatment, this patient achieved excellent outcome following the technique, showing that clinical symptom as like pain, swelling, paresthesia, color tone change was almost disappeared, and there was improvement of ROM and MMT Conclusion : Reflex Sympathetic Dystrophy Syndrome (RSDS) also known as Complex Regional Pain Syndrome (CRPS) is a chronic neurological syndrome characterized by severe burning pain, pathological changes in bone and skin, excessive sweating, tissue swelling, extreme sensitivity to touch. Oriental medical treatment for Reflex Sympathetic Dystrophy Syndrome resulted in satisfactory results by diminishing the symptoms progressively during the thirty two weeks of treatment. Differential diagnosis was based on careful physical examination. More research of Reflex Sympathetic Dystrophy Syndrome is needed.