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The Limb-Girdle Muscular Dystrophies (LGMD) refer to a group of heterogenous autosomal muscular diseases that cause progressive deterioration of proximal limb muscles and subsequently, myalgia and weakness in the hip girdle, thighs, shoulder girdle and proximal arms.
First coined by John Walton and Frederick Nattrass in 1954, the cardinal features of limb-girdle muscular dystrophy were listed as – occurring late in the first, second or third decade of life; commences with muscular weakness in either the shoulder or pelvic girdle; transmits via an autosomal recessive gene; and gradually progresses leading to severe disability and frequently, early death.
With over thirty subtypes of the condition existing today, limb-girdle muscular dystrophies are the fourth most common genetic muscle condition.
These are subdivided according to the inheritance pattern as either autosomal dominant (LGMD1) or autosomal recessive (LGMD2).
In addition to this, an alphabetical lettering system is assigned to signify the order of discovery of the chromosomal locus; subtypes of the condition are often differentiated by the protein that is most significantly affected.
Alexander Peter Murphy and Volker Straub, from The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, describe the pathogenesis of limb-girdle muscular dystrophies as caused by multiple genes encoding for proteins within the sarcolemma, cytosol or nucleus of the myocyte.
The authors state the possible mechanisms for myocyte damage as membrane instability, errors in formation of a functional dystroglycan complex and defects in muscle repair mechanisms; muscle fibre degeneration due to membrane instability is a common characteristic of the major LGMD subtypes.
Management strategies need to be individualised in order to accommodate specific musculoskeletal changes and to cater to the prevalent LGMD subtype.
This helps to adopt more proactive measures in counteracting the disease while eliminating unnecessary treatment options.
A multidisciplinary care programme will often include a selection of orthotic interventions inclusive of MASS4D® foot orthotics to promote independent mobility.
This is achieved by promoting optimal muscle function throughout the functional range of motion while coaxing weaker muscles into strengthening and re-establishing joint alignment.
MASS4D® orthotics would work in conjunction with other orthoses to control compensatory abnormal movements of the feet while helping the patient remain ambulatory for as long as possible.
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