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Magnetic Resonance Imaging as a Biomarker for Duchenne Muscular Dystrophy

임우택
한국전문물리치료학회 (Korean Research Society of Physical Therapy)|2015.09|한국전문물리치료학회지 (Physical Therapy Korea)|제22권 제3호|pp. 98-105|DOI http://dx.doi.org/10.12674/ptk.2015.22.3.098

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참고문헌

키워드

InflammationMagnetic resonance imagingMuscle damageEccentric exerciseDuchenne muscular dystrophyFatty infiltrationMuscular dystrophy.
주제분류물리치료학

초록

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like T2-weighted imaging, assess muscle damage, including inflammation, by detecting changes in T2 relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

Abstract

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like T2-weighted imaging, assess muscle damage, including inflammation, by detecting changes in T2 relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

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