Background: X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. Case Report: We report a case of a 58-year-old male with a positive family history of tremor. On examination, the patient had jaw and hand tremors but he also exhibited gynecomastia, progressive bulbar paresis, and wasting and weakness primarily in the proximal limb muscles. The laboratory tests revealed an elevated creatine phosphokinase. Genetic testing was positive for X-SBMA, with 42 CAG repeats. Discussion: Essential tremor is one of the most common movement disorders, yet it is important for clinicians to be aware of the presence of other distinguishing features that point to alternative diagnoses. The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA.
BackgroundMultiple Sclerosis (MS) is a neurological disease in which myelin is destroyed, impairing nerve impulse conduction.Fampridine is the first drug authorised for improving walking. It is a potassium channel blocker that improves electrical transmission for muscle stimulation.PurposeTo describe changes in quality of life of patients receiving fampridine regarding health perception (subjective change) and improved walking (objective change).Material and methodsProspective study during the first two weeks of patient treatment. Patients received fampridine 10 milligrams every 12 h plus their usual MS drugs. Health perception was measured by MS Quality Of Life-54 questionnaires and point-in-time assays of physical and mental health before and after taking fampridine. Changes in walking were measured by the Timed 25-Foot Walk (T25FW) test (time to walk 7.5 metres).Sample population was characterised by age, type of MS, and Expanded Disability Scale System (EDSS) point-in-time assays (disability due to MS from 1 to 10, 10 being death). Results before and after treatment were analysed with Student’s t-test. Statistically significant relationships between variables were evaluated by applying appropriate tests.Results39 patients, mean age 49, standard deviation (σ) 12.6. 15.4% had Relapsing-Remitting MS, 69.2% Secondary Progressive MS and 15.4% Primary Progressive MS. Mean EDSS score 5.5, σ 1.15.Physical health improved 9.05 points, confidence interval CI (5.57–12.52), p < 0.05. Mental health improved 6.62 points CI (3.58–9.68) p < 0.05. TW25F was reduced by 9.04 s CI (–11.93, –6.14), p < 0.05. Improvement was independent of MS type and EDSS punctuation, p < 0.05. Physical and mental improvement were directly related.ConclusionThe rapid effect of fampridine was obvious. Improvement in physical health (both subjective and objective measures) was observed. This might be because the mechanism of action directly targets the motor system. The relationship between physical and mental improvement is coherent, because personal autonomy raises self-esteem. Evaluation in larger samples and over a longer period is needed in order to substantiate a maintained benefit.References and/or AcknowledgementsNo conflict of interest.
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