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MDA
stands for Muscular Dystrophy Association, which
was established in November 1999. Guided by its
mottos “Since our patients are unable to stand on
their own, conservators must help them” and “As
a parent who shares in the pain, let us love and
protect other patients like our own children,” MDA
also visits and supports researchers of muscular
dystrophy, a rare disease. |
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Macrogen has been assisting MDA activities by letting
its employees keep in close contact with patients, especially
in young age, by holding various events such as annual
concert where both patients and employees participate,
and annual spring picnic and so on. In addition, Macrogen
has been funding part of MDA’s activities with the hope
of better future for patients. |
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What is muscular dystrophy?
Muscular dystrophy refers to a group of disorders characterized
by progressive muscle weakness, necrosis and regeneration
of muscle that are detected through muscle tissue examination,
uneven size of muscle fibers, and replacement of necrosised
muscle fibers with adipose and fibrous tissues. Although
biopsy opinions are similar, hereditary factors vary.
In general, symptoms such as difficulty in standing, walking,
and running due to progressive muscle weakness develop.
Therefore, carrying out a diagnosis according to hereditary
factors with only the symptoms is difficult. The most
common muscular dystrophies are Duchenne/Becker muscular
dystrophies (DMD/BMD). For the hereditary factors of this
disease, the discovery of dystrophin, one of fascia proteins,
and dystrophin gene led to a breakthrough in understanding
the pathophysiology of muscular dystrophy. In addition
to several types of muscular dystrophies classified according
to the existing clinical aspects, the causal proteins
and genes of about 20 muscular dystrophies have become
known through such scientific progress.
Showing an incidence rate of 1 out of 3,300~3,500 men
after birth and falling under an X chromosome-association
muscular dystrophy, Duchenne/Becker muscular dystrophies
account for about 90% of hereditary muscle disorders.
Depending on the seriousness of clinical aspects, types
of muscular dystrophy are classified into Duchenne and
Becker muscular dystrophies. In particular, the symptoms
of Duchenne muscular dystrophy are the delayed development
of muscle motor skills (in most cases, independent walking
is impossible until 18 months), frequent slips (at the
age of 4-5), and difficulty in tiptoeing or climbing stairs.
In most cases, the calf muscle shows false hypertrophy
(in actuality, muscles do not become portly; instead,
adipose and fibrous tissues are developed in the region
of necrosised muscle tissues such that muscles seem hard
and large), and muscle weakness begins to develop rapidly
in the muscle region of the lower limbs. As a result,
the patient is unable to walk independently at the age
of about 10, relying on a wheelchair instead. On the other
hand, clinical aspects and age of onset of Becker muscular
dystrophy vary: attack of the disease at the age of 6-19,
muscle weakness of the lower limbs, and muscle pain or
spasm of the calf muscle. Becker muscular dystrophy develops
slower than Duchenne muscular dystrophy. The development
pace also varies. As the causal gene, dystrophin is the
largest known single-disease gene, consisting of about
2,500,000 bases and about 79 exons (gene pieces). In terms
of hereditary factors, 50-60% of the disease attack rate
is caused by the deletion of gene; the other 40-50% is
caused by point mutation, minute deletion or duplication,
etc.
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