From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to 'growing pains' and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test.RSS is funded by Ciências sem Fronteiras/CAPES Foundation. The authors would like to thank the Association for Glycogen Storage Disease (UK), the EUROMAC Registry funded by the European Union, the Muscular Dystrophy Campaign, the NHS National Specialist Commissioning Group and the Myositis Support Group for funding

A comparison of metacognitive belief, thought strategies and hallucination in a spiritual and non-spiritual population

This study tested hypotheses about the role of spiritual beliefs in Morrison's (2001) model of hallucination using non-clinical spiritual (church attendees and mediums) and non-spiritual (control) groups.;The hypotheses were that metacognitive beliefs about uncontrollability and self-consciousness would be positively correlated with predisposition to hallucination for all groups. However, the spiritual group was expected to report more of these beliefs corresponding to a greater predisposition to hallucination. In addition only the control group was expected to show significant positive correlations between punishment, worry and reappraisal thought control strategies and hallucination. No differences were anticipated across the groups on the overall scores on these strategies.;A within and between design was used to test hypotheses, using a non-random volunteer sample, recruited from spiritual churches, medium and adult education colleges. A total of 78 questionnaires were returned from the 150 distributed. Questionnaires measures predisposition to hallucination, though control strategies, metacognitive beliefs, anxiety and autobiographical information including spiritual beliefs.;There was mixed support for the hypotheses, as the groups differed significantly on associations between uncontrollability and predisposition to hallucination. However, the medium and control group showed similar associations on the self-consciousness. In addition both spiritual groups reported stronger beliefs about self-consciousness corresponding to greater predisposition to hallucination. Consistent with the secondary hypotheses only the control group showed the predicted associations between the thought control strategies and hallucination. However, the medium group reported greater use of reappraisal and distraction strategies. Post-hoc analyses revealed differences between groups on rating for specific items comprising these strategies.;Spiritual beliefs were implicated in the relationship between metacognitive beliefs, thought control strategies and predisposition to hallucination. The theoretical and clinical implication of these findings were discussed with the strengths and weaknesses of the study and recommendations made for future studies

Is the expression of muscle glycogen phosphorylase tissue-specific? New perspectives on McArdle disease

McArdle disease is a rare glycogen storage disorder with a reported incidence of ∼1:100.000 people. It is caused by recessive mutations in the gene encoding for muscle glycogen phosphorylase (MGP), which prevents the skeletal muscle from metabolizing stored glycogen. Until very recently, MGP expression was thought to be essentially restricted to the skeletal muscle tissue. Yet, we have shown that human T lymphocytes also express MGP, which in turn plays a key role to control the migration and proliferation capacity of these cells. This finding suggests that MGP could play an important role in regulating human immune function. In addition, our group has observed previously unreported co-morbidities in patients with McArdle disease including retinopathy, thyroid disease, neurocognitive symptoms and psychiatric disorders. Here we will report on the expression levels of the three glycogen phosphorylase isoforms (brain, liver and muscle [i.e., MGP]) in human immortalized thyroid follicular epithelial (Nthy-ori-3-1) and retinal pigmented epithelium cells (ARPE-19), and in human microglia and astrocytes. We will also present data showing that the absence of expression MGP in Nthy-ori-3-1 and ARPE-19 modifies its biological functions.Sin financiación3.115 JCR (2019) Q3, 76/204 Clinical Neurology1.177 SJR (2019) Q1, 85/378 Neurology (clinical)No data IDR 2019UE