Homeopathy is useful for Duchenne muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy, Duchenne disease;
engl. Duchenne’s disease, Duchenne Muscular Dystrophy
The Muscular dystrophy of the Duchenne type is next to the "myotonic dystrophy"the most common hereditary muscular dystrophy and shows a pronounced already in early childhood muscular dystrophy. The reason for this is a mutation in the genetic blueprint for an important structural protein in the muscle, des Dystrophins. Due to the inheritance, men are almost exclusively affected. The disease leads to progressive muscle wasting and weakness, progresses rapidly and ends fatally by infecting the respiratory and heart muscles. Those affected usually die in early adulthood.
Duchenne muscular dystrophy is one x-linked recessive inherited diseasewhich, due to the lack or defect of dystrophin, an important structural protein in muscles, leads to progressive muscle wasting and sooner or later ends fatally.
Frequency / occurrence
Muscular dystrophy of the Duchenne type is about 1: 5000 die most common hereditary muscle disease of childhood. Due to the x-linked recessive inheritance, fmostly boys Affected by the full picture of the disease, girls only become ill if there is no intact blueprint for dystrophin on both X chromosomes, which is extremely rare.
In 2.5% of cases, carriers of a defective X chromosome show mild symptoms such as muscle pain, slight weakness or increased levels of a muscle enzyme (creatine kinase, CK) in the blood.
The symptoms of Duchenne muscular dystrophy usually show up before they reach school age.
The cause of the disease is the lack of the genetic blueprint for the Dystrophin protein on the X chromosome. As a rule, this is inherited, but a smaller proportion occurs spontaneously as a result of a random change in the parental genetic make-up.
In approx. 5% of the cases there is still a small residual production of dystrophin, which, however, is not sufficient to maintain the muscle function and structure.
The lack of this important Structural protein of the muscle cell leads to instability of the muscle cell membrane ("muscle cell membrane") and increased membrane permeability. This allows harmful substances to penetrate the muscle cell unhindered, and important substances in the cell are also lost. Over time, the damage adds up and leads to progressive cell damage and cell death in the Muscles. This leads to the clinical picture of Duchenne muscular dystrophy. The submerged muscle cells are partly replaced by fat cells, which leads to an apparent enlargement of the affected muscles in some parts of the body (Pseudohypertrophy).
The affected children usually fall through one delayed motor development (See also Medical check-up): They move little, learn to walk with a delay, fall frequently and are “clumsy”.
After learning to walk, the calves often increase in size considerably, the reason for this being the pseudohypertrophy of the calf muscles outlined above, the children also show Gait abnormalities in the sense of a Waddling gangs.
Info: muscle weakness
In the beginning, the disease primarily affects the Pelvic muscles, the children z. B. are unable to stand up from the supine position without the help of their arms. The maneuver instead, unconsciously carried out by the children, in which they turn in the prone position and rise above the quadruped position and support the arms on their own thighs "Gowers sign" called.
As the disease progresses, the abdominal and back muscles are increasingly affected, resulting in stronger and stronger ones Hollow back leads to the sick.
At the same time, shortening and hardening of the Musculature on, which lead to additional movement restrictions v. a. in hip, foot and knee joints. The muscle wasting in the shoulder region leads to protruding shoulder blades (Med .: Scapulae alatae, "angel wings"), the shrinkage of the neck muscles makes it difficult to straighten the head while lying down.
From around the 8th to 12th year of life, most patients are dependent on a wheelchair, and over time, a spinal curvature often develops (Scoliosis) and deformation of the Rib cage. This and the ever-advancing breakdown of the Respiratory muscles over time lead to an increasingly restricted breathing capacity and, under certain circumstances, to a serious risk to the patient. The restricted breathing in turn favors infections of the lung and the airways (see lung infection), which pose an additional threat to the patient. In the late stages of the disease, patients have to be artificially ventilated.
In the process there will also be one Heart failure, due to it too Cardiac arrhythmias.
In about 1/3 of the cases there is also one intellectual impairmentwhich manifests itself in a learning disability.
Committee diseases (differential diagnoses)
The clinical picture and the course of Duchenne muscular dystrophy are in themselves very characteristic. The Becker or Becker-Kiener muscular dystrophy, which is to be distinguished from Duchenne dystrophy. In the Becker muscular dystrophy, the dystrophin protein is not missing, but it is present in a greatly changed form, so that it can only perform a residual function. The affected muscle parts are similar to those in Duchenne dystrophy, but the course is much slower and the severity less pronounced.
Basically, other reasons for a delayed development come into question in the early stages, here are just one example of brain damage due to lack of oxygen or less birth called.
Due to the defect in the muscle cell membrane, the affected person shows one from birth strong increase in creatine kinase, an enzyme found in muscle, in the blood.
The neurological examination shows muscle weakness without sensory disturbances or muscle twitching, the reflexes are weak or have disappeared.
in the EMG (Electromyography) the picture is typical of muscular dystrophies.
The human genetic examination of a blood sample can prove the defect in the genetic material, but this proof cannot be provided in approx. 30% of the cases.
In such cases, microscopic examination of a tissue sample allows for a Muscle biopsy (Sampling) the diagnosis by showing the lack of dystrophin in the muscle cell using a special staining method.
After the diagnosis, that should heart be examined with ultrasound and EKG in order to detect damage at an early stage.
A causal therapy for Duchenne dystrophy is currently not possible, all hope lies in one future gene therapy. It is therefore important to ensure that those affected enjoy the highest possible quality of life for as long as possible by treating the symptoms.
These include, above all, massage, warm baths and measures to maintain automatic breathing for as long as possible (coughing exercises, singing, breathing training). Physiotherapy and training must be carried out very carefully so as not to damage the muscles through excessive strain, but they are useful to avoid stiffening.
There are various studies that investigate the possibility of having a beneficial effect on the course of Duchenne muscular dystrophy through the administration of medication. This research is currently ongoing, so no general statements can be made at this point. Surgical measures can correct incorrect posture and improve movement restrictions.
In each case there is one genetic counseling advising affected families, for example, to clarify the risk of developing the disease in other children. The connection to interest groups can help those affected to cope with life with the disease, to connect with other affected persons and to be informed about the current research.
The prognosis for the disease is still unfavorable: the average life expectancy of those affected is 20 to 40 years.
Other interesting topics that might interest you:
All topics that have been published in the field of neurology can be found at:
Are you an expert in neurology? Then test your knowledge of the subject area of Neurology.
Answer to this the following 20 questions.
Click here to go directly to Neurology quiz
- What is the strongest monster in Monster Hunter
- Can Parkinson's disease cause dementia?
- Advantages of iti of course
- What is the VVD mode in the camera
- Which is the best coffee machine
- Can cyber attacks lead to war?
- In early automobiles what is a cutout
- What cotton means is king
- What is Oasis Contriver Pvt Ltd 1
- What is Industry Support in NPTEL Courses
- How do bicycle power meters work
- How competitive are emergency medicine residency programs
- What jobs are better than coding these days
- What is the difference between belief and visualization
- How is Arizona
- Why are my hands red
- What are the companies using BizTalk
- Why is the Bill of Rights important
- How do I control rapid hair loss
- Is humor associated with IQ or EQ
- What do rich people study, not entertainment
- Mahesh tutorials is good for trading
- How can you use a blockchain database
- Who invented algebra Arabs or Indians
- Who is your favorite novelist in South Africa
- What was the most disastrous tweet
- When did the Xbox come out
- You can get turmeric naturally from foods
- How is a currency valued against the USD
- What comes after Algebra 2
- How is Pioneer's home audio
- What are some good nicknames for Caitlyn
- What are your favorite quotes about moving
- Why is the American state of emergency so widespread