The Management of Congenital Muscular Dystrophy ... - Cure CMD

Box 1 continuedRYR1 related myopathy (also known as RYR1-RM, includes RYR1-CMD)Overlaps with RYR1 related myopathies (RYR1-RM), central core andcentronuclear myopathyConsidered CMD if muscle biopsy is dystrophic without typical central coresLMNA related dystrophy (also known as LMNA-RD, includes L-CMD, LMNA-CMD) Dropped head syndrome, foot-drop, non-ambulatoryAmbulatory presentation may be called early-onset Emery-Dreifuss musculardystrophy.This demonstrates L-CMD is a part of the LMNA related Dystrophies which includesDropped head syndrome L-CMD, Ambulatory L-CMD and Emery-Dreifuss.CMD UndiagnosedPeople with CMD may carry a clinical diagnosis of CMD without geneticconfirmation. While clinical presentation and/or muscle biopsy are consistentwith CMD, genetic testing may not provide a diagnosis as not all CMD geneshave been discovered. Genetic testing under the guidance of a CMD expert isencouraged.(Continued from page 2)Some of the known genetic mutations causemuscles to break down faster than they canrepair or grow, leading to muscular weakness.A child with CMD may also have differenttypes of neurologic or physical problemsrelated to the CMD. Some children walk bythemselves or with supports; other childrenlearn how to walk but then become weakerand stop walking; and some others maynever walk at all.Children who acquire the ability to walkor those who first have symptoms in latechildhood or adulthood may be referred toas having Limb Girdle Muscular Dystrophy(LGMD). All CMD subtypes are on a spectrumwith CMD (early onset, weaker) on one endand LGMD (later onset, milder) on the other.Box 1 lists the known subtypes of CMD.See Appendix A for a full description.It is important to remember that notall people with CMD have all thesymptoms or need all the treatments youwill read about in this guide.Although there may be similarities, eachperson’s course with CMD will be uniquewith differing needs atdifferent points in time. This means caremust be individualized and it maybe difficult to meet someone whose CMDis exactly the same.How to Use this Document4 5