We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (m...

OBJECTIVES To evaluate the value of whole-body magnetic resonance imaging (WBMRI) in diagnosing muscular and extra muscular lesions in patients with polymyositis (PM) and dermatomyositis (DM). METHODS A retrospective analysis of WBMRI data from PM/DM patients who met the Bohan and Peter diagnostic criteria was performed. X2 test was used to compare the rate of positive diagnosis of newly diag...

conclusions full echocardiographic examination of the right ventricle, including rvot is essential for the diagnosis of this disease. surgical correction appears to be a successful strategy for management of this rare condition in adults. case presentation we report a 40-year-old man who was referred to cardiology clinic for work-up of dyspnea and a heart murmur found on his physical examinatio...

OBJECTIVE: The development of morphological and functional imaging techniques has improved the diagnosis of muscular disorders. METHODS: With the use of whole-body magnetic resonance imaging (MRI) the possibility of imaging the entire body has been introduced. In patients with suspected myositis, oedematous and inflammatory changed muscles can be sufficiently depicted and therefore biopsies be...

BACKGROUND Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation. OBJECTIVE To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy. DESIGN Screening for mutati...

OBJECTIVE Clinical trials involving patients with Duchenne muscular dystrophy are hindered by the lack of suitable objective end points. The purpose of this study was to examine whether muscle lipid infiltration measured with the three-point Dixon MRI technique has value as a marker of disease severity. SUBJECTS AND METHODS Disease severity in nine boys (mean age, 8.6 +/- 2.7 years) with Duch...

Muscular dystrophies (MD) constitute a group of inherited disorders, characterized by progressive skeletal muscle weakness and heart involvement. Cardiac disease is common and not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction, heart block or m...

Background Duchenne (DMD) and Becker (BMD) muscular dystrophy (MD) are inherited X-linked disease characterized by progressive skeletal muscle degeneration and myocardial involvement and caused by a mutation on dystrophin gene (Xp21). Dystrophin is a sarcolemal protein that links the cytoskeleton to the basal lamina and is essential for maintenance of the muscular membrane integrity during musc...

Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to premature death. This case report describes the genetic, oral and systemic findings ...

One of the most dificult problems in modeling medical reasoning is to model a procedure for diagnosis about complications. In medical contexts, a patient sometimes suffers from several diseases and has complicated symptoms, which makes a differential diagnosis ve y dificult. For example, in the domain of headache, a patient suffering from migraine, (a vascular disease), may also suffer from mus...