• Journal of the Korean Data and Information Science Society
• /
• v.21 no.6
• /
• pp.1091-1100
• /
• 2010

The purpose of this study is to investigate by questionnaire method the guardian's mental attitudes and self-esteem toward their children with muscular dystrophy according to the sex, the age, the academic background, the family budget monthly income, the children's grade, the body ability, the muscular dystrophy recognition lapse, and religion. The guardian's mental attitudes toward their children with muscular dystrophy regarding the consultation hope, the basic recognition, the child custody, the personnel relationship and the childcare, the view of the future are very closely connected with each category and they are various from the whole categories.

• Child Health Nursing Research
• /
• v.7 no.4
• /
• pp.421-433
• /
• 2001

The purpose of this phenomenological study was to understand the lived experience of mothers of children with muscular dystrophy. The participants were 11 mothers recruited by snowball sampling, who agreed with the objectives of the research and could verbally communicate with the researcher and who lived with their sons who had muscular dystrophy. Data collection was done through in-depth interviews with participants in their own homes. Each interview took 50 to 120 minutes. All of the interviews were audiotaped and then transcribed. Data were analyzed using Colaizzi's (1978) method of phenomenology. From the transcripts 109 significant sentences and phrases were selected and 13 clusters of themes were categorized from 67 significant statements. These results were integrated into the essential structure of the lived experience of mothers of children with muscular dystrophy. 1. Anxious and relying on chance due to indefinite diagnosis. 2. Only able to cry with shock because of son's fatal disease. 3. Seeing the future as dismal and feeling resentment that this disease in transmitted through the mother. 4. Feeling caught between a husband who is distancing himself from his family and the family which is disintegrating. 5. Feeling like a sinner for transmission of genetic disease(Feeling guilt for conceiving a son with a genetically transmitted fatal disease). 6. Empathizing with other suffers of muscular dystropy and their parents in their grief and helping to dissipate their heavy feelings. 7. Deciding to sacrifice self as a way of taking responsibility for giving birth to a handi-capped son. 8. Losing hope (feeling despair) as son's condition deteriorates in spite of all attempts to help him. 9. Wishing to die with son who becomes progressively immobile. 10. Accumulating Han*(한, 恨), because of rising Hwa(화, anger), and becoming sick both mentally and physically. 11. Seeing events as destiny and finding self-control through faith. 12. Finally, giving up sacrificing self for son and becoming concerned(involved) with other children in the family. 13. Feeling fear at son's impending death. This is the first research on the experience of Korean mothers of children with muscular dystrophy. In applying the phenomenology research method, this study not only helps health professionals understand the experience of these mothers in the Korean patriarchal social system, but the researcher, as a nurse, can share their agony and grief through identification of their inner world through in-depth personal interviews. The results obtained in this study will not only help in the development of family nursing practice for families with genetically transmitted diseases but also prepare basic data for family nursing practice in the Korean sociocultural context.

• 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.

• Journal of Genetic Medicine
• /
• v.14 no.2
• /
• pp.75-79
• /
• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• 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 Genetic Medicine
• /
• v.18 no.2
• /
• pp.101-104
• /
• 2021

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.16 no.4
• /
• pp.225-232
• /
• 2013

Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.

• Clinical and Experimental Pediatrics
• /
• v.57 no.3
• /
• pp.149-152
• /
• 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

• Journal of Genetic Medicine
• /
• v.16 no.2
• /
• pp.67-70
• /
• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Clinical and Experimental Pediatrics
• /
• v.57 no.5
• /
• pp.232-239
• /
• 2014

Purpose: Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD. Methods: We retrospectively evaluated the echocardiographic data of 90 children with MD and 42 with DMD. Using two-dimensional echocardiography, including time-motion (M) mode and Doppler measurements, we estimated the LV mass, ratio of early to late mitral filling velocities (E/A), ratio of early mitral filling velocity to early diastolic mitral annular velocity (E/Ea), stroke volume, and cardiac output. A "z score" was generated using the lambda-mu-sigma method to standardize the LV mass with respect to body size. Results: The LV mass-for-height z scores were significantly below normal in children with MD ($-1.02{\pm}1.52$, P<0.001) or DMD ($-0.82{\pm}1.61$, P =0.002), as were the LV mass-for-lean body-mass z scores. The body mass index (BMI)-for-age z scores were far below normal and were directly proportional to the LV mass-for-height z scores in both patients with MD (R =0.377, P<0.001) and those with DMD (R =0.330, P=0.033). The LV mass-for-height z score correlated positively with the stroke volume index (R =0.462, P<0.001) and cardiac index (R =0.358, P<0.001). Conclusion: LV myocardial atrophy is present in patients with MD and those with DMD and may be closely associated with low BMI. The insufficient LV mass for body size might indicate deterioration of systolic function in these patients.