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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 17-year-old boy with muscular dystrophy developed a cardiomyopathy. His brother died of a cardiomyopathy, and muscle enzyme levels were elevated in asymptomatic family members. Examination revealed cardiomegaly, hepatomegaly, proximal muscle atrophy and weakness, and calf hypertrophy. Skeletal muscle and endomyocardial biopsy specimens were consistent with Becker's muscular dystrophy. Because of intractable heart failure, orthotopic cardiac transplantation was performed. Two years after transplantation, the patient has returned to work and regained previous exercise tolerance. Heart transplantation can be an acceptable treatment of patients who have muscular dystrophy, with preserved ambulation and favorable life expectancy, and also life-threatening cardiomyopathy refractory to medical management.
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PMID:Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. 265 28

The proband, a 17-year-old boy, was admitted to our department because of the difficulty in standing on heel. Physical examination revealed a marked weakness and atrophy of bilateral lower legs, especially anterior tibial muscles. Patellar and Achilles tendon reflexes were abolished. Marked hepatomegaly and moderate splenomegaly were noted on abdominal echogram and CT scanning. Serum creatine kinase, lactate dehydrogenase, GOT and GPT were markedly increased. There were no abnormal findings in thyroid function, serum lipid analysis and serum lactate level after ischemic forearm exercise test. EMG of anterior tibial and calf muscles showed a mixture of myogenic and neurogenic patterns and biopsy specimen of calf muscle was compatible with a dystrophic change. Liver biopsy specimen revealed no noticeable change except a slight ballooning of hepatocytes in light microscopy. However, electron microscopic examination showed a marked increase of intracellular vesicles and enlarged smooth ER in which low-density, cotton-like materials were contained. In family study, both his father and paternal uncle were also affected with advanced scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly. The disorder differs from Miyoshi's distal muscular dystrophy, which shows an early involvement of flexor muscles in lower extremities and is inherited as an autosomal-recessive trait. Although the etiology of hepatomegaly in this case remains to be elucidated, the special findings on electron microscopic study imply the possibility of some unknown metabolic disorder involving both muscle and liver. This disease seems to be a new type of scapuloperoneal-type myopathy, probably having an autosomal-dominant inheritance.
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PMID:[Familial scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly]. 275 61

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.
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PMID:Radiographic features of Golden Retriever muscular dystrophy. 1715 67

Pompe disease is classified into infantile-, childhood- and adult-onset forms based on onset age and the degree of organ involvement. Differing from the infantile-onset form which is characterized by marked organ involvement, the childhood-onset form usually presents with muscle weakness and elevation of serum creatine kinase (CK), mimicking those of progressive muscular dystrophy. We report our successful early diagnosis and initiation of enzyme replacement therapy (ERT) in a young girl with childhood-onset Pompe disease before the development of skeletal muscle symptoms. She was referred to our hospital at the age of 2 years 4 months because of hyperCKemia detected incidentally. She was active and lacked developmental delay and muscle weakness; however, hepatomegaly was noted. The combination of high-density changes in the liver and skeletal muscle on computed tomography (CT) images was suggestive of glycogen storage disorder, especially childhood-onset Pompe disease. Low alpha-glucosidase (GAA) activity on dried blood spots facilitated the diagnostic process, and genetic analysis of GAA allowed a definitive diagnosis, without performing muscle biopsy. We promptly started ERT at the age of 2 years 6 months. After 1 year, she still had not developed any skeletal muscle symptoms, and serum CK level was almost normal. Since the efficacy of ERT is thought to depend on the extent of muscle damage at its commencement, we expect that ERT may have prevented the manifestation of skeletal muscle involvement in this patient.
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PMID:High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease. 2170 64

Thirty five floppy children seen during two year period, were subjected to clinical examination, electroneuromyography and muscle biopsy. The muscle biopsy was sent for routine histology, histochemistry and electron microscopy. Using muscle pathology as the 'gold standard' for diagnosis, the aetiological entities were spinal muscular atrophy (16), congenital muscular dystrophy (6), mitochondrial myopathy (3), congenital fibre type disproportion (2), acid mutase deficiency (1) and benign congenital hypotonia (6). Mental subnormality, seizures, ptosis and ophthalmoplegia suggested mitochondrial disease (n=2). Macroglossia, hepatomegaly and cardiomegaly along with the dive bomber effect on electromyography were useful clues to the diagnosis of Pompe's disease (n=1). Positive decremental test established the diagnosis of congenital myasthenia in one patient. Contrary to most previously published reports, infantile onset of spinal muscular atrophy did not always spell a poor prognosis on follow up. 'Floppy infant syndrome' has varied etiology. Comprehensive evaluation including clinical, electrophysiological and detailed histological examination is necessary for proper diagnosis and prognosis of this heterogenous entity.
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PMID:Neuromuscular disorders in infancy and childhood. 2951 74