FAQ
What is Duchenne muscular dystrophy
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How old do you get
The life expectancy of people with Duchenne muscular dystrophy (DMD) has increased significantly over the years, thanks to advances in medical care, supportive care, and supportive therapy. Some people with Duchenne muscular dystrophy can now live into middle adulthood thanks to improved care and treatment approaches, while others with the disease still die in early childhood.
Up to what age can you go
The age at which those affected are able to walk varies greatly. Often, children can walk until they are about ten years old. However, some can walk until their teens.
How far has research progressed
There have been promising developments in the field of gene therapy for Duchenne. Various studies and clinical trials have been conducted to investigate whether the introduction of a functional dystrophin gene into the muscles of patients can improve the symptoms of the disease.
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Exon skipping: This technique aims to bypass defective sections of the dystrophin gene and enable the production of a partially functional dystrophin protein. This could alleviate muscle symptoms.
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Pharmacological approaches: Drugs have been developed to support muscle function in Duchenne muscular dystrophy in various ways. One example is the drug ataluren, which targets a specific gene mutation.
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Stem cell therapy: Researchers have also investigated whether stem cells can be used to repair or regenerate damaged muscles in Duchenne patients.
What is a deletion
A deletion is a genetic process in which a section of the genetic material, i.e. DNA, is removed from a chromosome. This can lead to changes in the genetic information that can affect the function of a gene or an entire chromosome.
Deletions can occur in several ways:
Point-based deletion: This involves deleting only a single nucleotide building block or a small number of nucleotides within the DNA sequence.
Large deletion: This is the removal of a large section of DNA, which can include several genes or even entire chromosome sections. Deletions can lead to a variety of effects in genetics:
Genetic disorders: Deletions in a gene can result in the corresponding protein not being produced or only being produced in reduced quantities, which can lead to genetic disorders. For example, a deletion in the dystrophin gene can cause Duchenne muscular dystrophy.
Deletions can occur spontaneously or be caused by external influences, such as radiation or chemical substances. Some deletions are harmless, while others can have serious health effects, depending on the genes or chromosome regions affected.
What is an exon
An exon is a section within a gene that contains the genetic information needed to make a protein. The human genome contains both exons and introns. Exons are the coding sections that contain the instructions for building proteins, while introns are non-coding sections that lie between the exons.
What is a carrier
The term "carrier" is often used to refer to a person who carries a particular trait or genetic characteristic and passes it on. In this case, the disease Duchenne muscular dystrophy is passed on through the mothers.
What is exon skipping
Exon skipping is a therapeutic technique used in genetic diseases caused by mutations in certain genes. This technique is particularly well-known in connection with Duchenne muscular dystrophy (DMD), a genetic disease caused by mutations in the dystrophin gene.
Exon skipping involves skipping specific exons (coding sections) in the pre-mRNA. The idea behind this technique is to enable the production of a partially functional protein, rather than having a completely missing or defective protein. This leads to slowing down the progression of the disease.
There are mutations in the dystrophin gene in Duchenne muscular dystrophy that result in a missing or severely defective form of the dystrophin protein. By skipping certain exons, a "shortened" but still functional dystrophin protein can be produced, which can help to alleviate the symptoms.
Was ist eine Spondylodese OP
Spondylodesis surgery is a surgical procedure used in orthopedics to treat spinal problems. In this extremely complex and risky operation, the spine of Duchenne boys is completely stiffened. The operation takes many hours. During a spinal fusion, the vertebral bodies are fixed in a position that restores or maintains their natural alignment and stability. Bone grafts, screws, plates, rods or other implants are often used for this purpose. The idea behind spinal fusion is to stabilize the spine in the affected areas or completely in order to protect the organs, relieve pain, correct the spinal deformity or treat injuries. Spinal fusion is a very serious operation and is usually only considered when conservative treatment methods such as physiotherapy, medication and rest have not been successful.
Why do those affected freeze quickly
People with Duchenne muscular dystrophy (DMD) have an increased sensitivity to cold due to progressive muscle weakness. There are several reasons why people with Duchenne muscular dystrophy get cold more quickly:
Muscle weakness: Duchenne muscular dystrophy causes a gradual weakening of the muscles in the body, including the muscles responsible for heat production. Muscles generate heat as a byproduct of their activity. As muscle weakness progresses in DMD patients, the body's ability to generate and maintain heat is compromised.
Circulatory problems: Advanced Duchenne muscular dystrophy usually affects the cardiovascular system. When the heart does not function optimally, it affects blood flow and circulation, which in turn affects body heat.
It is important to note that individual sensitivity to cold may vary depending on the course of the disease and other factors. People with Duchenne muscular dystrophy should take appropriate measures to prevent hypothermia when exposed to cold, such as wearing warm layers of clothing, avoiding excessive cold, and warming up in warm environments.
What does tendon lengthening do
A tendon lengthening is an orthopedic operation that is intended to reduce or eliminate contractures in order to enable longer walking or standing. Because Duchenne muscular dystrophy is caused by a defect in the dystrophin gene, the disease affects muscles at the cellular level. Therefore, tendon lengthening is not an effective treatment to treat the underlying cause of Duchenne muscular dystrophy. Treatment for Duchenne muscular dystrophy instead focuses on various approaches to support muscle function, mobility, and quality of life for those affected.
What is an ICD?
An ICD stands for "implantable cardioverter defibrillator". It is a medical device that is used to treat life-threatening cardiac arrhythmias. The ICD is a further development of the pacemaker and also has the ability to detect and treat dangerous heart rhythms.
An ICD consists of a generator that is implanted under the skin in the chest area and electrodes that are fed to the heart through blood vessels or veins. The generator continuously monitors the patient's heart rhythm. If the ICD detects a dangerous heart rhythm, such as ventricular fibrillation (a life-threatening rapid and uncoordinated heart activity), it can automatically deliver electrical shock therapy. These shocks are intended to restore the heart's normal rhythm. ICDs are widely used in people at high risk for life-threatening cardiac arrhythmias, such as patients with severe heart failure (Duchenne muscular dystrophy). They can reduce the risk of sudden cardiac death by intervening in life-threatening arrhythmias. Implantation of an ICD requires surgical intervention. Modern ICDs can also have additional functions, such as recording heart rhythm data for later analysis by the doctor.
Who came up with the idea for the foundation
The idea for this website came from Max Keinath (29) from Baden-Württemberg, who himself suffers from Duchenne muscular dystrophy.