ABSTRACT
We report a family with three generation affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle sparms may apprear. The gene is expressed with differing intensity in each individual. Myopathic electro myographic alterations are only found in fuctionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Blepharoptosis/congenital , Neuromuscular Diseases/congenital , Muscular Atrophy/congenitalSubject(s)
Mental Disorders/drug therapy , Carbamazepine/therapeutic use , Central Nervous System Agents/therapeutic use , Clomipramine/therapeutic use , Fluoxetine/therapeutic use , Heterocyclic Compounds/therapeutic use , Psychotropic Drugs/therapeutic use , Selegiline/therapeutic use , Tryptophan/therapeutic useABSTRACT
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 percent respectively. When three or more symptoms and one positive sign were considered as cutoff points, global specificity increased to 61 percent and sensitivity decreased to 93 percent. It is concluded that the present instrument is highly sensitive but lacks specificity
Subject(s)
Humans , Male , Female , Middle Aged , Cerebrovascular Disorders/epidemiology , Mass Screening , Cross-Sectional Studies , Predictive Value of Tests , Surveys and Questionnaires , Sensitivity and Specificity , Age Distribution , Sex Distribution , Neurologic Examination/methodsABSTRACT
A 62 years old male with a slowly progressive focal myopathy is presented. He had noticed weakness in the lower limbs of 3 years and weakness in the upper limbs for 1 year. He had bilateral atrophy of quadriceps and biceps muscles, absence of knee jerks and hypertrophy of the calves. Needle EMG showed myopathic motor units. Hystological study was compatible with muscular distrophy. The clinical and laboratory characteristics of the patient are in keeping with what has been described as quadriceps myopathy as a form of a muscular dystrophy