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This essay will outline the principal features of the musculoskeletal system and look into a rare and debilitating disorder: fibrodysplasia ossificans progressiva (FOP). The devastating effects of this condition will be explored as will treatment options

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Introduction

Musculoskeletal System and Disorders This essay will outline the principal features of the musculoskeletal system and look into a rare and debilitating disorder: fibrodysplasia ossificans progressiva (FOP). The devastating effects of this condition will be explored as will treatment options. The musculoskeletal system, conceded by Lipman (2005), is made up of muscles and specialised connective tissues including: bone, ligaments, cartilage and tendons. Bones provide the foundation for the rest of the body: a point of attachment for muscles facilitating movement, stability and strength through rigidity, protection of fragile organs, storage of minerals like calcium (key for muscle contraction), and blood synthesis by haemopoiesis, in the red bone marrow (Waugh and Grant, 2010). Osseous tissue is 'living'; writes Hamerman (1998), it is continuously reconstructing and replacing itself. There are several types of bone, shaped in concordance with their function, for example: the flat bones of the cranium create a protective shell around the brain (Walker, 2010). Bone structure also varies; compact (cortical) bone is typically found where strength and durability is needed, like the shaft (diaphysis) ...read more.

Middle

FOP results from a mutation of the ACVR1 gene: a BMP (bone morphogenic protein - bone synthesis) receptor; in FOP cases not only has elevated levels of BMP been found, stimulating excess bone growth, but also reduced levels of antagonistic proteins such as noggin (Shore, Snow and Kaplan, 2006). This negative cycle causes the rapid onset of symptoms, with ectopic bone growth visible from infancy (Schwartz, 2011). Ectopic bone growth spreads through the body over time, fusing joints and reducing the patient's range of motion until immobility is reached, typically in their thirties (Fibrodysplasia Ossificans Progressiva FOP, 2006). The genetic mutation is not essentially fatal; however complications can be, like restrictive lung disease or malnutrition caused by mandibular immobilisation (Fibrodysplasia ossificans progressiva, 2011). Sources vary regarding the number of known cases; Schwartz (2011) suggests 200 cases worldwide, while Shore, Snow and Kaplan (2006) estimate 600 with as many as 2,500 encompassing undiagnosed cases. Shore and Kaplan are directly involved in the leading FOP research, hence more reliable. ...read more.

Conclusion

Bone marrow transplants aiming to replace marrow stem cells are being explored, but probably not beneficial due to the invasiveness of the procedure. Another experimental treatment utilizes retinoic acid receptor agonists, scientists believe it breaks-down the cartilaginous framework before bone growth occurs though no conclusive evidence from clinical trials has arisen (Kaplan, Shore and Pignolo, 2011). Analgesics and muscle relaxants remain popular with physicians for the management of acute and chronic pain despite concerns related to long-term use. Current research by Kaplan et al and Takahashi et al, explored by Lowery and Rosen (2011), investigates the application of allele-specific RNA interference (ASP-RNAi) to simultaneously selectively repress and retain normal expression of ACVR1, bringing BMP levels within a normal range thus controlling bone growth; however this is still experimental. The apparent focus continues to be the search for effective gene therapy to prevent, stop or counter the effects of HO. Considering most other treatments either only camouflage or postpone symptoms temporarily, gene therapy appears the most convincing route. It is early days regarding FOP research and understanding; combined with technological advances it can be surmised that a cure is in sight. ?? ?? ?? ?? Elizabeth Chavez Human Anatomy and Physiology Level 3 03/01/12 1 ...read more.

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