Search Results - "Ramjattan, H."

244P A natural history study of congenital myasthenic syndromes, to establish reliable outcome measures suitable for clinical and research assessment by Ramjattan, H., English, H., Hennehan, L., Ramdas, S., Palace, J.

“…Congenital myasthenic syndromes (CMS) are a group of rare inherited disorders affecting the neuromuscular junction structure and function, characterised by…”
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245P Exploring the relationship between an instrumented walking test and community physical activity in individuals with congenital myasthenic syndrome by Ramjattan, H., English, H., Ramdas, S., Esser, P., Palace, J.

“…Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders causing fatigable muscle weakness due to neuromuscular junction dysfunction. The…”
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150P Patient, caregiver and healthcare professionals’ perspective on spinal bracing in early onset spinal muscular atrophy in the UK: a national survey by Quelch, W., Taylor, F., Thorman, P., Ramjattan, H., Ramdas, S., Ong, M.

“…Scoliosis occurs in the majority of patients with early onset spinal muscular atrophy (SMA), even after treatment with novel pharmaceutical therapies. Despite…”
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176P Acceptability, feasibility, safety and potential efficacy of an optimised rehabilitation for treated patients with SMA in UK: ACE SMA by Lilien, C., Hill, S., Mavrommati, F., Ramjattan, H., Taylor, F., Collett, J., Servais, L.

“…To support the effect of disease-modifying therapy (DMT) in Spinal muscular atrophy (SMA), more proactive rehabilitation is recommended. Standards of Care…”
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241P Long term follow-up of CHRNE congenital myasthenic syndrome (CMS) – a retrospective multi-centre cohort study by Henehan, L., Khries, M., Ramjattan, H., Dong, Y., Everett, R., Munot, P., Jungbluth, H., Beeson, D., Ramdas, S., Palace, J.

“…Mutations in the CHRNE gene encoding the ε subunit of the adult nicotinic acetylcholine receptor (AChR) lead to an AChR deficiency syndrome and are the most…”
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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy by Muntoni, Francesco, Domingos, Joana, Manzur, Adnan Y, Mayhew, Anna, Guglieri, Michela, Sajeev, Gautam, Signorovitch, James, Ward, Susan J

“…Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognised and complicates interpretation of clinical studies. We hypothesised…”
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235P Cross sectional study of 187 patients with congenital myasthenia syndrome, describing the clinical phenotypes, genetic mutations, and single point standardised assessment scores by Ramdas, S., Ramjattan, H., Hennehan, L., Natera De Benito, D., Nascimiento, A., Della Marina, A., Schara-Schmidt, U., Munot, P., Simmons, E., Maggi, L., Gallone, A., Nadaj Pakleza, A., Chanson, J., Marini-Bettolo, C., Moat, D., Paz Guerrero-Molina, M., Dominguez-González, C., Jungbluth, H., Sheehan, J., Palace, J.

“…Congenital myasthenic syndromes (CMS) are inherited disorders of defective neuromuscular transmission. The clinical phenotype and treatment response vary…”
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A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians by Choong Wong, Sze, Joseph, Shuko, Capaldi, Nadia, Marco, Marina Di, Dunne, Jennifer, Guglieri, Michela, Horrocks, Iain, Straub, Volker, Faisal Ahmed, S

“…Background/aims Given the extent of osteoporosis in people with Duchenne muscular dystrophy treated with glucocorticoids and the limited evidence of…”
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