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Diabetes in the young - a case of Alström syndrome with myopathy.
In this report, we describe a patient with features of Alström syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far. PMID: 25874828 [PubMed - in process]
Source: Journal of the Royal College of Physicians of Edinburgh - November 30, 2015 Category: Journals (General) Tags: J R Coll Physicians Edinb Source Type: research

Dilative vasculopathy and cerebral haemorrhage as a presentation of late-onset pompe disease
Conclusion Vasculopathy is an under recognised complication of Pompe disease. The subsequent intracerebral and subarachnoidal heamorrhages can be the presenting feature leading to diagnosis of Pompe disease, despite symptoms of the disease often being present for a number of years previously. With the advent of enzyme replacement which has revolutionised treatment, particularly in paediatric populations, it is important to diagnose this disorder early. Dry blood spot analysis for acid maltase enzyme activity provides a low cost way of screening for Pompe disease which should be considered in any adult patient presenting wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Lilleker, J., Roberts, M., Boothman, B. Tags: Genetics, Muscle disease, Neuromuscular disease, Radiology, Musculoskeletal syndromes, Surgical diagnostic tests Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 October 2013 Source Type: research

Progressive cognitive difficulties in adult patients with mitochondrial disease
Conclusion These findings demonstrate widespread cognitive difficulties that can undermine independence and quality of life in patients with mitochondrial disease, and emphasise the need to incorporate cognitive testing into clinical practice, in order to ensure that appropriate care is provided. These findings serve as an informative guide for assessing the true nature and severity of cognitive disability in patients with mitochondrial disease and preface future studies assessing speed of progression and final cognitive outcome, whilst providing clues to the role of mitochondrial dysfunction in other neurodegenerative con...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Moore, H., Kelly, T., Trenell, M., Deary, I., Turnbull, D., Gorman, G. Tags: Genetics, Drugs: CNS (not psychiatric), Muscle disease, Neuromuscular disease, Memory disorders (psychiatry), Musculoskeletal syndromes Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 Oct Source Type: research

Camptocormia as a presentation of polymyositis
We present here a case of a 59 year old woman who presented with many medical problems prompting referral and investigation under many medical specialties over several years. These included bowel motility problems, dysphagia secondary to oesophageal achalasia and cardiac problems with atypical chest pain and an abnormal ECG. She was referred to Neurology when she developed a 2 year progressive history of difficulty walking with the main problem being her inability to support her body weight and her body moving forwards towards the ground with abnormal forward flexion (camptocormia) on standing. Her sitting was not affected...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Karsan, N., O'Dwyer, J., Al-Memar, A. Tags: Neurogastroenterology, Muscle disease, Neuromuscular disease, Pain (neurology), Radiology, Musculoskeletal syndromes, Surgical diagnostic tests Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 2 Source Type: research