Neuromuscular Disorders: A Clinical Approach
Detailed history and clinical examination are the cornerstones of the diagnostic process of neuromuscular disorders. Using these, the clinician can shortlist his differential diagnosis and then employ targeted investigations for further information. This
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Neuromuscular Disorders: A Clinical Approach
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History and Examination in Neuromuscular Disorders
History taking in neuromuscular disorders, while similar to other areas of neurology, has some special aspects which need to be borne in mind. Patients are often suffering for long, and their disabilities may have led to negative or difficult attitudes. It therefore pays to go that extra length in connecting with the patient and the family before beginning the interview. This is perhaps a very important step, as the physician has to carry them through the protracted and difficult process of achieving the precise diagnosis, explaining the limited availabilities at the disposal, to help them lead as productive a life as possible and to discuss and guide through the preventive aspects of these chronic and limiting diseases. The interviews can get lengthy as a lot could have happened in the patient’s life before he has reached you; this is particularly true in countries where the expertise and resources are in short supply. It is useful to schedule the clinical interview early in the day so that the tests could follow on the same day. This means a lot to the disabled individuals and their caregivers. On the other hand, sometimes the first examination may have to be performed in the intensive care unit and will have limitations of the patient’s ability to cooperate and the rigmarole of the intensive care units. The exercise of diagnosing the patient’s condition from his own words is rewarding as it cuts the costs of investigations. Hence listening to the patient while he speaks (without ‘using’ that time to fill out forms) helps formulate the diagnostic process. Regrettably, as we ‘advance’ in medicine, the number of things to arrange, beyond the clinical examination, are ever increasing and that is likely to derail the young doctor into allowing his mind to get distracted from the patient’s account of his illness. Once a symptom is given, it should be pursued in its entirety by asking questions to determine the duration, areas affected, associated features, exacerbating and relieving factors and, importantly, whether the issue is progressing or improving. Due to chronicity, some landmarks tend to get hazy, and helpful suggestions from the examiner will clarify the confusions.
© Springer Nature Singapore Pte Ltd. 2018 S.V. Khadilkar et al., Neuromuscular Disorders, https://doi.org/10.1007/978-981-10-5361-0_1
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1 Neuromuscular Disorders: A Clinical Approach
1.1.1 Family History Family history assumes much importance in neuromuscular disorders as a large proportion of these diseases are inherited in nature. Neuromuscular conditions can have intra-familial 222variations and formes frustes exist, and hence it can be difficult for families to correlate the basis of differing manifestations seen in family members and they may not be reported. For example, in a multisystem disease like myotonic dystrophy, relatives can have early cataracts, frontal baldness, infertility or diabetes which are unlikely to be perceiv
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