Latest research

46 CMS children in a 15 year study of patients at Dubowitz Neuromuscular Centre and the Evelina Children’s Hospital
(Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges - Kinali, Beeson et al 2008)
Just 13 were originally referred with a suspected myasthenia
2 children died, 3 siblings also died but were not included in the study. “Sadly, the occurrence of previous unexpected infantile deaths may be seen in affected pedigrees.”
The majority of CMS are treatable – not curable, but quality of life can be massively improved and health stabilised with appropriate drug therapy
15 were diagnosed in the last two years – moving fast
“In summary, we believe that CMS are not as infrequent as previously suggested and should be considered in the differential diagnosis of congenital myopathies and muscular dystrophies in childhood particularly where there is significant weakness with relatively mild, non specific muscle biopsy changes... Appropriate treatment and multidisciplinary management may help prevent morbidity and unexpected deaths.”