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A 33-year-old man was admitted for general malaise and vomiting. An electrocardiogram showed a complete atrioventricular block and an echocardiogram showed right atrial dilatation and normal wall motion of left ventricle (LV). Gene analysis showed nonsense mutation in the STA gene, which codes for
Heart implication in Duchenne muscular dystrophy usually is present in the form of dilated cardiomyopathy, manifested as heart failure and arrhythmias. To delay progression, including heart deterioration, prednisone is recommended as preventive treatment. We report the case of an 11-year-old boy
A 15 year old boy with Duchenne muscular dystrophy had severe pain in the lower abdomen and complained of nausea and bilious vomiting. A physical examination and an abdominal X-ray indicated an acute gastric dilation. With a treatment policy of administering nothing orally, a downward-hanging
OBJECTIVE
Duchennes Muscular Dystrophy is an X-linked recessive disorder, generally diagnosed in childhood, which progressively worsens to degenerate respiratory function. This report aimed at presenting the case of a patient with Duchennes Muscular Dystrophy diagnosed 2 years before, submitted to
Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, mental retardation, or stupor. Involvement
On the 1st of April in 1988, we identified 26 children with Fukuyama type congenital muscular dystrophy (FCMD) among 1,227,000 children in Tokyo whose ages ranged from 6 to 14 years. The prevalence rate of FCMD was 2.1 per 100,000. All affected children attended special school for crippled children.
The abdominal complications of Duchenne muscular dystrophy (DMD) include acute gastric dilatation, superior mesenteric artery (SMA) syndrome, ileus and constipation. We report herein a patient with DMD in whom SMA syndrome was successfully treated with enteral tube nutrition. The patient was a
A 20-year-old man with Duchenne muscular dystrophy (DMD) with recurrent gastric volvulus underwent percutaneous endoscopic gastrostomy (PEG). Four months later, he developed vomiting and consciousness disturbance. CT revealed gastric volvulus recurrence along the gastrostomy axis. Endoscopic
We report two cases of intestinal pseudoobstruction caused by visceral smooth muscle involvement due to myotonic muscular dystrophy. Two patients with myotonic muscular dystrophy presented with abdominal pain, distention, constipation, and vomiting. The exclusion of mechanical obstruction by plain
BACKGROUND
Complex glycerol kinase (GK) deficiency is a contiguous deletion of genes in Xp21 with loss of the locus for GK, for congenital adrenal hypoplasia (AHC) and/or for Duchenne's muscular dystrophy (DMD). We report the case of a 7-year-old patient with this rare disease.
METHODS
Our patient
Since skeletal muscle is an important source of precursor for gluconeogenesis, it would not be surprising if carbohydrate metabolism was altered in some muscle disorders. We report a 7-10/12-year-old white male with congenital muscular dystrophy whose recurrent episodes of vomiting and dehydration
A case-control study was undertaken to see if symptoms of upper gastrointestinal (UGI) (oropharyngeal, esophageal, and gastric) dysfunction occurred more frequently in males afflicted with Duchenne muscular dystrophy (DMD) than healthy controls. Subjects included 55 children with confirmed DMD and
To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype.Clinical, electrophysiological, neuroradiological, and This is a report of a case of Duchenne muscular dystrophy (DMD), with multiple infarcts in the territories of the basilar artery. He developed abrupt vomiting and transient left hemiparesis at the age of 4 years. The episodes were seen 3 times between 4-year-1-month to 5-year-1-month old. Transaxial