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Duchenne dystophia: recognizing the symptoms in time can make the difference

Duchenne muscular dystrophy is a form of progressive muscular dystrophy, which is inherited by a gene linked to the X chromosome. Therefore, the mother, when a healthy carrier, can transmit the gene to her son who will show symptoms of the disease.

The incidence of Duchenne dystrophy is not so negligible, in fact it affects about 1 in 3500 male children.

As in many other genetic pathologies, it is also essential for Duchenne dystrophy to recognize the symptoms in time, when they first appear. For this reason, the “Take the first step”  campaign was designed  , aimed not only at families (parents, grandparents, uncles…) but also at all operators who work with children such as teachers and educators.

Progress in the medical field is continuous, in fact compared to a few decades ago, today a lot can be done for Duchenne but the timing of the diagnosis can make the difference on its course and therefore on the future of the child.

Take the first step: recognize the symptoms of Duchenne in time

Take the first step is a campaign, with the unconditional support of PTC Therapeutics, which aims to help parents and family members not only to learn more about the pathology, but also to promptly identify the symptoms, when they first appear, because an early diagnosis can make a difference on the course of the disease.

Although in most cases the obvious symptoms begin around 4-5 years of age, already around 16-18 months of the child can be identified the first signs that indicate that there is something wrong. An alarm bell goes off in moms and dads that must be indulged. If your instinct tells you that there is something that you think is not right, listen to it and discuss with the doctors what is troubling you.

What symptoms to watch out for?

There are some early symptoms to watch out for, even before the disease manifests itself.

These  initial symptoms concern the child’s motor sphere and include:

  • difficulty learning to sit up unaided
  • difficulty maintaining an upright position
  • frequent falls
  • late acquisition of the ability to walk

Already around 2 years of age it is possible to notice other evident signs which can be:

  • abnormal enlargement of the calf, due to the accumulation of collagen and fat
  • difficulty walking, running, jumping, standing up, keeping up with other children
  • difficulty getting up from a kneeling position (Gower’s sign)
  • tendency to walk on toes

How is the diagnosis made?

When there is a suspicion that the child may be suffering from a muscle disease, the assessment of Duchenne dystrophy is done through a blood test, for the determination of the blood concentration of an enzyme: creatine-phospho-kinase (CPK).

CPK is a muscle enzyme which, in the event of disease, is 10-10,000 times higher in the blood than normal values.

Can a mother tell if she has Duchenne dystrophy?

If there are cases of Duchenne in the family, it is important that the woman undergoes genetic analysis to understand if she is a carrier of the pathology.

If she is a carrier, when she wants a child, I will be able to resort to pre-implantation diagnosis , within an assisted fertilization process.

Female carriers usually do not have muscle weakness although they may have slightly elevated CPK concentrations.

However, some carriers have pain and cramps during exercise, some heart problems and in some cases enlarged calves.

Dr Kathryn Barlow

Kathryn Barlow is an OB/GYN doctor, which is the medical specialty that deals with the care of women's reproductive health, including pregnancy and childbirth.

Obstetricians provide care to women during pregnancy, labor, and delivery, while gynecologists focus on the health of the female reproductive system, including the ovaries, uterus, vagina, and breasts. OB/GYN doctors are trained to provide medical and surgical care for a wide range of conditions related to women's reproductive health.

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