Non quantitative mri usually depicts a relative sparing of sartorius, gracilis and semintendinosus muscles in the thigh and the gastrocnemius in the leg. Apr 26, 2018 as for today entry, i will share a case study about a patient with duchenne muscular dystrophy. Nov 09, 2015 case studymotor system,myopathy,muscular dystrophy 1. Diagnostic suspicion is based on these clinical and electrocardiographic findings, which can be confirmed by muscle biopsy and genetic study.
He presented with typical symptoms of dmd, which were. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. People born with dmd will see many healthcare providers throughout their l. Muscular dystrophy is a group of diseases that attack a persons musculoskeletal system and impede their ability to move. During anaesthesia bradycardia was followed by ventricular fibrillation, on which ventricular flutter supervened and a body temperature rise of 0.
The caffeine sensitivity test of biopsied muscle fibers. Duchenne muscular dystrophy is the most common muscle dystrophy in india as well as the world. Malignant hyperpyrexia and duchenne muscular dystrophy. Decreased or truncated dystrophin protein is associated with less severe form is becker muscular dystrophy.
Ck stands for creatine kinase creatine kinase is an enzyme that leaks out of damaged muscle. We report a patient with duchenne muscular dystrophy who developed malignant hyperpyrexia during general anaesthesia. Case report a 25 years old male was admitted on 2nd march 20 with history of difficulty in walking since 12 years and breathlessness on exertion since 2 years. To further complicate things, his brother thomas who was 16 months younger was also showing symptoms of the disease and he too was diagnosed with dmd that same day. It is the second exonskipping, diseasemodifying drug to treat dmd, the most common childhood form of muscular dystrophy. Diagnosis and management of duchenne muscular dystrophy, part 1. We present a clinical report of a patient with dilated cardiomyopathy by becker muscular dystrophy that underwent cardiac transplantation and has a 15 years. Muscular dystrophy md refers to a group of more than 30 genetic diseases that cause muscle degeneration, progressive weakness and chronic or permanent shortening of tendons and muscles. If you continue browsing the site, you agree to the use of cookies on this website.
Duchenne muscular dystrophy dmd is a rare genetic inherited disease defined by muscle weakness that gets worse over time and ultimately affects the heart and lungs. Aug 11, 2015 this case report describes the genetic, oral and systemic findings in two cases of dmd in male siblings. Duchenne muscular dystrophy care considerations cdc. He was diagnosed as a case of duchenne muscular dystrophy. Are there other muscular dystrophy mdlike conditions. Diseases characterized by muscular weakness in early infancy typically obvious at birth and elevated ck in neonatal period normalizes by 610 wks. Challenges in the management of the child with duchenne.
Oculopharyngeal muscular dystrophy or oculopharyngeal distal. Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management pdf icon pdf 509 kb external icon. Jitesh sharma presents a case of muscular dystrophy in an 8 year old boy. Diagnosis and management of duchenne muscular dystrophy, part 2. Jan 18, 2018 a case of duchennes muscular dystrophy dr. Daniel is in a wheelchair but has good upper body strength. Nov 24, 2001 editordorling and salt describe an evidence based approach to the assessment of a boy with locomotor developmental delay manifesting as late walking.
He developed scoliosis at the age of 12 which has gradually worsened to the present state as shown in figures 2 and 3. However, in patients with duchenne muscular dystrophy, stem cell therapy still remains experimental. It is a plus that the student can read a free sample case study on muscular dystrophy and receive a chance to prepare w ellformatted and logical assignment. Typically muscle loss occurs first in the thighs and pelvis followed by those of the arms. Case discussion x linked recessive muscular dystrophy that is commonly seen in children that begins in the proximal pelvic girdle and progresses distally. Hungarian families facing the devastating diagnosis of duchenne muscular dystrophy dmd have very limited access to information about the disease, other than the condition is incurable, their child will be wheelchairbound by the age of 10, and he will most likely not live past his 20th birthday. Despite being a bright student read more case study.
Dec 16, 2019 muscular dystrophy md is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. Request pdf home accessibility and adaptive equipment in duchenne muscular dystrophy. It is important to accept the fact that just as patients are different from each other in terms of age, general condition, and diagnoses, that the final effects of any therapy will also vary from patient to patient. Duchenne muscular dystrophy i would like to give a brief overview of this disease that is described by tecklin 2008 in his book, paediactric physical therapy, as one of the most prevalent and disabling childhood myopathies p. Pdf duchenne muscular dystrophy dmd is a severe type of muscular dystrophy. A case report this case report describes the history of a 26yearold man with duchenne muscular dystrophy. Genetic testing case study ck level tests doctors order a blood test called the ck level test. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. Ct images of the middle part of the thigh were acquired in a patient with duchenne muscular dystrophy once a year from 6 to 11 years of age. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. Gaurang gaikwad presents a case of duchennes muscular dystrophy in a 5 year old boy muscular dystrophy in an 8 year old boy dr. Treatment focuses on symptom management and can include steroids, physical therapy, breathing support devices and surgery. Muscular dystrophy research papers examine the medical condition and explicate it fully.
Muscular dystrophy case study by kaylee suarez on prezi. The emerydreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear. The most severe end of the spectrum is known as duchenne muscular dystrophy lacking completely dystrophin protein. Oct 30, 2014 duchenne muscular dystrophy is a progressive genetic disease with no cure at present.
Vancomycin is a widely used glycopeptide antibiotic that requires therapeutic drug monitoring tdm owing to its narrow therapeutic window. Duchenne muscular dystrophylike phenotype in an lgmd2i. Sudden cardiac death of duchenne muscular dystrophy with nt. Weakness is mainly proximal and the muscular dystrophies alan e h emery seminar the muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity.
Autologous bone marrow mononuclear cell transplantation in duchenne muscular dystrophy a case report article pdf available in american journal of case reports 15. Sep 28, 2017 duchenne muscular dystrophy dmd is caused by mutations in the dmd gene. Each time the muscle contracts, muscle damage occurs, which is repaired but with the deficient protein. The most effective way to complete a good case study is to apply for the help of the internet and use a free example case study on muscular dystrophy analyzed by the real expert in this field. This is the second case of tracheocoele originating in the left paratracheal region reported in the literature, and the first associated with duchenne muscular dystrophy and prolonged use of a. This guide suggests general strategies to enhance your students school experience both academically and socially, and it addresses school issues that may arise throughout k12 education. Currently there is no treatment available to stop any form of muscular dystrophy. There is usually delay in motor development and eventually wheelchair confinement.
Duchenne muscular dystrophy dmd is the most common xlinked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Both anomalies occurring in the same child is extremely rare. Three major forms of muscular dystrophy congenital duchenne muscular dystrophy muscular dystrophy found at or near birth. Duchenne muscular dystrophy i have attached the rubric. He is presently bed bound with weakness and contractures of all limbs and spinal deformities as shown in figure 1. Approximately onethird of affected individuals have a new mutation in. Niar 28611 duchenne muscular dystrophy providing research and information services to the northern ireland assembly 3 previously, data suggested that the chances of a person with dmd living to 25 years of. We report a mild case of female dmd with a balanced x. An uncommon variant of rare type of muscular dystrophy. Regions apparently corresponding to subcutaneous fat, bone and bone marrow were manually excluded, and the ct values were calculated to prepare histograms. Becker muscular dystrophy bmd, a genetic disorder of xlinked recessive inheritance, typically presents with gradually progressive muscle.
Sep 28, 2017 duchenne muscular dystrophy dmd is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. Duchenne muscular dystrophy dmd, the most common and severe form of muscular dystrophy, was slowly destroying the muscles in stephens small body. Dystophin is primarily made in the muscle cells of the heart and skeletal muscle. The dmd gene provides instructions for making a protein called dystrophin. A very high ck level shows that the muscles themselves is the cause of weakness. Aug 21, 2017 muscular dystrophy case presentation slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Review diagnosis and management of duchenne muscular. Paediatricians caring for the child with duchenne muscular dystrophy in resource poor settings face a lot challenges.
Heart transplantation in becker muscular dystrophy patient. These articles outline the latest in clinical care to help families and healthcare professionals manage duchenne muscular dystrophy. Duchenne muscular dystrophy nord national organization for. Becker muscular dystrophy presenting with epilepsy. Allogeneic hematopoietic stem cell transplantation is a wellestablished therapy for diamondblackfan anemia. Duchenne muscular dystrophy dmd and becker muscular dystrophy bmd are allelic disorders of the dystrophin gene at the xp21 locus1,2. Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy. Patient case study progressive muscular dystrophy male, 12 years old, jan feb 2011.
This assignment is part two on the topic of duchenne muscular dystrophy needs intext citations. Daniel is aware of his disease and the limitations it will have on his life. I have attached the first case study case one report. Significant calf muscle hypertrophy was seen on examination. Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. The main clinical manifestations include early development of contractures, progressive muscular atrophy and weakness, and cardiac conduction disturbances. A case of duchenne muscular dystrophy gaurang gaikwad.
Diamondblackfan anemia and duchenne muscular dystrophy are two rare congenital anomalies. Therapeutic drug monitoring of vancomycin in a patient with duchenne muscular dystrophy dmd. Muscular dystrophy results in difficulty walking, disability, ultimately the use of a wheelchair. Duchenne muscular dystrophy duchenne muscular dystrophy posted 32905 key points duchenne muscular dystrophy dmd is an xlinked condition that causes progressive muscle weakness and cardiomyopathy, with death by the third decade in affected males. However, certain therapies and medications aim to treat the various problems that result from muscular dystrophy.
Heterogeneous group of diseases, which do not fit into the above two major categories. Duchennes muscular dystrophy by chalayna landers on prezi. Pdf a rare case report of neurodegenerative disease. A muscular dystrophy was the probable diagnosis and to confirm this various investigations were. An 8 year old boy was presented for difficulty in walking and muscle weakness with. Tracheocoele in a duchenne muscular dystrophy patient. Successful bone marrow transplantation in a patient with. A spontaneous or genetic disorder in which voluntary muscles are affected in a progressive, deteriorating manner. Duchenne muscular dystrophy dmd is one of the most common and. The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Duchenne muscular dystrophy dmd is a severe type of muscular dystrophy.
Beckers muscular dystrophy international journal of. Duchenne muscular dystrophy like phenotype in an lgmd2i patient with novel fkrp gene variants. A 15yearold male with progressive muscular dystrophy of the. Dystrophin plays an essential structural role in both cardiac and skeletal muscle, protecting the sarcolemma from mechanical stresses of muscle contraction3.