Whenever
muscular dystrophy is mentioned, most people raise their eyebrows at
the strange term, those who have heard of the condition point out that
it is unique to boys. Whenever I meet someone who is familiar with the
term, my day gets a little bit brighter since I know we are moving
towards the point where muscular dystrophy is too alien.
Duchenne muscular dystrophy (DMD) has for a long time been known to be unique to boys but new research shows that it can also manifest in girls.
Here's some information about this form of muscular dystrophy;-
How does Duchenne manifest?
In Duchenne muscular dystrophy (DMD) lack of the protein dystrophin causes muscles to deteriorate and break down, leading to progressive difficulty with walking and general mobility. DMD is the most frequently occurring and one of the most rapidly progressive of the childhood neuromuscular disorders. It affects approximately 1 in 3500 live male births throughout the world. DMD affects only boys (with extremely rare exceptions).
Symptoms
There are often difficulties with diagnosis in DMD because the symptoms may vary and where there is no family history DMD may not at first be suspected. It is quite common to see a delayed walking age with first steps being taken at around eighteen months. Once a boy with DMD is walking he may fall readily. He often has difficulty climbing (stairs for example), difficulty running and jumping, and he may develop a ‘waddling’ gait. Classic symptoms include enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk on his toes and this is often accompanied by a protruding abdomen and sway-backed stance, called ‘lordosis’. He may experience difficulty getting up from the floor without help, he may use his hands to climb up his legs for support – this is referred to as ‘Gowers sign’. These symptoms generally begin to develop between the ages of one and three years and continue to progress until he requires wheelchair support, most often between the ages of eight and twelve.
What is the cause of Duchenne?
In approximately one-third of DMD cases the genetic fault is not inherited but arises in the affected boy himself and then it is known as a ‘spontaneous mutation’.
The condition is severe enough to shorten life expectancy but with high standards of medical care young men with Duchenne muscular dystrophy are often living well into their 30s.
Duchenne muscular dystrophy (DMD) has for a long time been known to be unique to boys but new research shows that it can also manifest in girls.
Here's some information about this form of muscular dystrophy;-
How does Duchenne manifest?
In Duchenne muscular dystrophy (DMD) lack of the protein dystrophin causes muscles to deteriorate and break down, leading to progressive difficulty with walking and general mobility. DMD is the most frequently occurring and one of the most rapidly progressive of the childhood neuromuscular disorders. It affects approximately 1 in 3500 live male births throughout the world. DMD affects only boys (with extremely rare exceptions).
Symptoms
There are often difficulties with diagnosis in DMD because the symptoms may vary and where there is no family history DMD may not at first be suspected. It is quite common to see a delayed walking age with first steps being taken at around eighteen months. Once a boy with DMD is walking he may fall readily. He often has difficulty climbing (stairs for example), difficulty running and jumping, and he may develop a ‘waddling’ gait. Classic symptoms include enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk on his toes and this is often accompanied by a protruding abdomen and sway-backed stance, called ‘lordosis’. He may experience difficulty getting up from the floor without help, he may use his hands to climb up his legs for support – this is referred to as ‘Gowers sign’. These symptoms generally begin to develop between the ages of one and three years and continue to progress until he requires wheelchair support, most often between the ages of eight and twelve.
What is the cause of Duchenne?
In approximately one-third of DMD cases the genetic fault is not inherited but arises in the affected boy himself and then it is known as a ‘spontaneous mutation’.
The condition is severe enough to shorten life expectancy but with high standards of medical care young men with Duchenne muscular dystrophy are often living well into their 30s.
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