ABSTRACT
Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders.
Subject(s)
Dystrophin/genetics , Exercise , Muscular Dystrophies/complications , Pain/etiology , Blotting, Western , Child , Creatine Kinase/blood , Exons/genetics , Gene Deletion , Humans , Male , Muscular Dystrophies/genetics , Polymerase Chain ReactionABSTRACT
BACKGROUND: Duchenne muscular dystrophy is the most frequent neuromuscular disease in children. AIM: To determine the causes of delayed diagnosis of the disease. PATIENTS AND METHODS: The clinical records of 61 children diagnosed as Duchenne progressive muscular dystrophy were analyzed. RESULTS: the first symptoms of the disease were noticed at a mean age of 1.5 years. Parents consulted at the mean age of 3 years, but the accurate diagnosis was made at a mean age of 5.7 years. In only 15% of children, the disease was diagnosed in the first four years of age. Less than 20% of children were referred for an adequate study and the rest were managed mainly as flat feet. CONCLUSIONS: Duchenne dystrophy is the most common neuromuscular disorder in children, with an incidence of 1 in 3679 male newborns. The lack of recognition of non specific symptoms such as retardation in independent walking and frequent falls as forms of presentation, is probably the most important cause of diagnostic delay. Strong recommendation is made to measure creatinphosphokinase and to study every male child that is not walking independently by the age of 18 months.
Subject(s)
Muscular Dystrophies/diagnosis , Age of Onset , Child , Child, Preschool , Chile , Humans , Infant , Male , Time FactorsABSTRACT
We report a 45 years old female with a HTLV-I associated myelopathy, followed up for 10 years who, five years ago, developed personality changes and intellectual deterioration, assessed with the Wais-Benton test. She also had alterations in the electroencephalogram and a nuclear magnetic resonance imaging of the brain showed hypodensity in T1 and hyperdensity in T2 subcortical regions. The progression of intellectual impairment was related to an increase in proviral DNA, assessed with polymerase chain reaction.
Subject(s)
Dementia/virology , Encephalitis, Viral/etiology , HTLV-I Infections/complications , Paraparesis, Tropical Spastic/complications , Encephalitis, Viral/diagnosis , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Middle AgedABSTRACT
We assessed a screening instrument, adapted from a model suggested by WHO, aimed to perform population studies on the prevalence of cerebrovascular disease in Chile. Sixty-two subjects, 31 with cerebrovascular diseases and 31 without, were asked about symptoms and requested to do simple movements by trained interviewers. The results of the instrument were compared with a neurological examination performed by two specialists. Global sensitivity and specificity of the instrument, using WHO evaluation criteria, were 100 and 38.7% respectively. When three or more symptoms and one positive sign were considered as cutoff points, global specificity increased to 61% and sensitivity decreased to 93%. It is concluded that the present instrument is highly sensitive but lacks specificity.