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Muscular Dystrophy
Muscular dystrophy is a group of genetic diseases that cause rapid muscle degeneration. Duchenne muscular dystrophy is the most common form. All questions relating to muscular dystrophy can be found here.
195 Questions
Is duchenne muscular dystrophy hereditary?
Yes, Duchenne muscular dystrophy is a genetic disorder caused by mutations in the dystrophin gene. It is inherited in an X-linked recessive manner, meaning it primarily affects males and can be passed down from carrier females.
What type of genetic disorder is muscular dystrophy?
Muscular dystrophy is a genetic disorder that causes progressive weakening and deterioration of the muscles. It results from mutations in genes responsible for the structure and function of muscle fibers. There are several types of muscular dystrophy, each with specific genetic causes and patterns of muscle weakness.
Who is affected by muscular dystrophy?
Muscular dystrophy primarily affects the muscles and can impact individuals of all ages. It is a genetic condition that causes progressive weakening and loss of muscle mass, leading to mobility issues and potentially affecting various bodily functions. The severity of the condition can vary greatly among those affected.
What type of allele is responsible for causing duchenne muscular dystrophy?
Duchenne muscular dystrophy is caused by a recessive allele on the X chromosome. This means that males are more commonly affected since they only have one X chromosome. Females can carry the allele but are usually not affected due to having a second X chromosome that often carries a normal copy of the gene.
Where can you find pedigree diagrams for Muscular Dystrophy?
You can find pedigree diagrams for Muscular Dystrophy in scientific articles, textbooks on genetics, or on specialized websites that focus on genetic disorders or medical genetics. These diagrams visually represent the genetic relationships within families affected by Muscular Dystrophy.
What is the Difference between muscular sclerosis and muscular dystrophy?
Multiple sclerosis means "many scars" on the myelin sheath of the central nervous system, and muscular dystrophy refers to muscle weakness and atrophy. Multiple sclerosis affects nerve while muscular dystrophy affects muscle. Some of the symptoms are similar, such as extreme fatigue and difficulty with movement, but MS is an autoimmune disorder that can flare and affect a different area of the CNS each time while MD is a genetic disorder that is progressive and often follows a specific pattern (areas) of muscle wasting.
With MS, disability occurs when the flares are more constant and cause permanent nerve damage to an area of the body, sometimes resulting in being blind, incontinent, wheelchair bound, or even bed ridden. With muscular dystrophy, the disability comes from the lack of stamina due to muscles wasting. Having less and less healthy muscle fibers makes the person exhausted doing simple tasks and eventually can lead to inability to lift, carry, walk, or stand. Falls can happen with both disorders, as healthy nerve and muscle are needed to balance one's body. Falling can result in a secondary disability and recovery is slow and incomplete sometimes. Both of these diseases and their sufferers need our support.
How does muscular dystrophy affect people?
Muscular dystrophy is a group of genetic disorders that lead to progressive weakness and loss of muscle mass. This can result in difficulty with movement, breathing, and other physical functions. The severity of symptoms and progression of the disease can vary depending on the specific type of muscular dystrophy.
Who muscular dystrophy affects?
MD is a genetic disorders in which strength and muscle bulk slowly weakens. It is caused by incorrect or missing genetic information. Without this information you can not build or maintain healthy muscles. You slowly lose the ability to walk or even sit up right. This disease can occur at any age in a persons life and there is no known cure.
Where does the form muscular dystrophy come from?
Muscular dystrophy is a genetic condition caused by mutations in genes responsible for the structure and function of muscles. These mutations lead to muscle weakness, wasting, and degeneration over time. There are many different types of muscular dystrophy, each caused by mutations in specific genes.
Basically in younger ages you don't feel much pain, but as the M.D. progresses basically you lose your balance and fall alot. I walked on my tiptoes because my tendons were too tight which is like having cramps in your muscles all the time. By the time I was in a wheelchair, the pain and cramping had stopped. I was 7 then...By 9 I was in an electric chair because the tendons and muscles shrunk i have all the sensation in my body like you, but i cant scratch my own nose. That's pain... lol. That being said, the older I get the more pain there is. My bones are squishy and are easy to break which I have done a few times.Back gets sore due to the curvature of my spine ...gravity sucks. You also sit all day which gives me a numb butt and hurts my tailbone. The worst thing for me is the fact that the diaphragm muscles got to the point I needed physio every time I got a cold so I could cough up the crap in my lungs. Cracked a few ribs here wasn't fun. I got so sick that needed medical intervention. I ended up on a trache and ventilator that breathes for me (m.d. means muscles don't work... try to flick that spider off your hand...cant move, that's also painful) Getting suctions to remove the excess secretions in my lungs that builds up because i cant cough means that my lungs get a rubber hose shoved in them all the time and it scratches and cuts the lining of your lungs so it bleeds and burns which can also lead to illness. The final for me would be the microtears I get in my muscles every two to three weeks. Its like spraining your ankle all the time same kind of pain. It is not unmanageable, I use medical cannabis. It helps stop cramping and relieves tension and tightness in muscles as well as numbing the microtears and muscle aches. I am 31 and hope I have answered your question.
Dale
What race does Duchenne Muscular Dystrophy usually occur in?
Duchenne Muscular Dystrophy is more commonly seen in males of all ethnicities. It is an X-linked recessive disorder that primarily affects males because the gene mutation responsible for the condition is located on the X chromosome.
How does the lyon hypothesis effect duchenne muscular dystrophy?
The Lyon hypothesis states that one X chromosome in females is randomly inactivated during early development, leading to mosaicism. In the case of Duchenne muscular dystrophy, if the X chromosome carrying the mutation is inactivated in a female carrier, she may exhibit less severe symptoms due to the presence of the normal X chromosome. This mosaicism can result in varying degrees of disease severity among female carriers.
Is muscular dystrophy capitalized?
yea bcuz muscular dystrophy is the name of the disease and therefore is a proper noun
Famous people with duchenne muscular dystrophy?
Duchenne muscular dystrophy is a rare genetic disorder that primarily affects males. Due to the severity of the condition, there are no famous individuals known to have had Duchenne muscular dystrophy.
Can Females get Duchenne's muscular dystrophy?
Yes, there have been documented cases of females getting DMD but it is very rare since the father that affected by the disease must procreate with a female carrier of the disease and create a daughter of course.
Is duchenne muscular dystrophy curable?
Theres no proper known cure for DMD, but its treatment is based on making the signs n symptoms better, however the choice of treatments are steroids Prednisol and Transplantation of Embryonic Stem Cells.
I hope this answer helps! All the best!
Dr. Malik! ** 7/2/09 ** Link added below showing new treatment for DMD.
When was muscular dystrophy first recognized as a genetic disorder?
Alkaptonuria was the first identified Genetic disorder noted as following Mendelian Inheritance (by Sir Archibald Garrod in 1902). It is a rare disease: less than one in 250,000 people are affected. Many physicians will never see a patient with Alkaptonuria in their career. It is a recessive disorder, caused by a single gene defect, mapped to Chromosome 3, between regions 3q21-q23. The site of the homogentisate 1,2-dioxygenase (HGD) gene.
Alkaptonuria is a genetic disease, meaning that it is passed on by the sufferer's parents. For this to happen both parents must be a carrier of the gene that can cause Alkaptonuria. Because the gene does not always cause Alkaptonuria, people can be carriers without themselves suffering from the disease.
If both parents are carriers, the child has a one in four chance of having Alkaptonuria. This happens when the child receives the gene with the disease-causing change from both parents.
So even if both parents are carriers, there is still a 75 per cent chance that the child will not have Alkaptonuria. This would be the case if the child receives the gene that doesn't have a disease-causing change from one or both parents.
This explains the low incidence of the disease: both parents must be carriers, and both parents must pass on the gene with the disease-causing change. It also explains why one child in a family may have Alkaptonuria but their siblings may not.
What Alkaptonuria does
People with Alkaptonuria do not have enough of an enzyme called homogentisic acid oxidase. The body uses this enzyme to break down a substance called homogentisic acid. Because normal amounts of this enzyme are missing,homogentisic acid is not used and builds up in the body. Some is eliminated in the urine, but the rest is deposited in body tissues, where it accumulates at 2,000 times the normal rate.
This accumulation of homogentisic acid causes ochronosis, a blue-black discoloration of connective tissue including bone, cartilage, and skin caused by deposits of ochre-colored pigment. And because homogentisic acid is toxic, this build-up in the body tissues eventually leads to multiple and chronic health problems for Alkaptonuria sufferers.
Diagnosis and symptoms
Babies born with Alkaptonuria do not suffer any immediate ill effects. However, because of the presence in their urine of homogentisic acid, which turns a dark colour after several hours' exposure to air, parents may notice dark staining of the baby's nappies or diapers. If proper tests are then carried out, this can lead to diagnosis of the disease.
Many sufferers, however, are not diagnosed with Alkaptonuria until symptoms appear later in life, after years of accumulation of homogentisic acid in their body tissues. The onset of clinical joint disease may differ from an age of six years to an age of 60 years. Generally, there is increasing joint pain and limited and painful use of the large weight-bearing joints: knees, hips, spine and shoulders.
The main symptoms and some of the health problems caused by Alkaptonuria and ochronosis are described below.
Skeletal (bones and cartilage)
The knees, shoulders, and hips are most affected. Deposits of pigment cause cartilage to become brittle and eventually to fragment (break apart). Arthropathy (diseased joints characterised by swelling and enlarged bones) is common.
Patients suffer intense joint pain and decreased mobility. Many will have surgery to replace affected joints. Sometimes patients end up wheelchair-bound.
In general, people start complaining of back pain in their 20s and 30s, and knee pain in their 40s. However, the onset of symptoms depends on the individual and can vary greatly. Hip and shoulder pain often occurs later, but usually by the age of 50. Many people have at least one joint replaced by age 55.
Cardiovascular (heart and blood vessels)
Heart problems often start after age 50. These include calcification of the coronary arteries (the vessels that feed the heart). The aortic and mitral heart valves -- which separate chambers of the heart -- are most affected. The build-up of homogentisic acid can cause valves to calcify or harden, leading to narrowing of the valve causing problems with blood flow. Pigment deposits also can lead to the formation of atherosclerotic plaques (hard spots in arteries) containing cholesterol and fat.
Genitourinary (genital and urinary systems and organs)
In men, the prostate is most commonly affected. Pigment deposits can form stones in the prostate.
Respiratory (organs and structures involved in breathing)
Heavy pigment deposits are common in the cartilage of the larynx (voice box), the trachea (windpipe), and the bronchi (air passages to the lungs).
Ocular (eyes)
Vision is not usually affected, but pigmentation in the white part of the eye is evident in most patients by their early 40s.
Cutaneous (skin)
Again, the age at which this becomes noticeable varies according to the individual. Effects are most noticeable in areas where the body is exposed to the sun and where sweat glands are located. Skin takes on a blue-black speckled discoloration. Sweat can actually stain clothes brown.
Pigmentation of the skin is more visible in some patients than others. It is often first seen in the ear lobe. It can also be seen in the bridge of the nose, cheeks, hands, and skin overlying tendons.
Other body systems
The teeth, central nervous system (brain and spinal cord), and endocrine organs (which make hormones) also may be affected.
Description taken from The Alkaptonuria website -
http://www.alkaptonuria.info/380158
How is Duchenne Muscular Dystrophy inherited monosomy or trisomy?
Duchenne affects approximately 1 in every 3500 boys, or 20,000 babies born each year worldwide. Because the Duchenne gene is on the X chromosome, the disorder manifests primarily in boys. In nearly 35% of cases, Duchenne is caused by random genetic mutation.
How many people have duchenne muscular dystrophy disease?
It is estimated that approximately 1 in every 3,500 to 5,000 boys are born with Duchenne muscular dystrophy worldwide. The exact number of individuals with this disease can vary by region and population.
Who found Duchennes Muscular Dystrophy?
Duchenne muscular dystrophy was first described by the French neurologist Guillaume Duchenne in 1861. He conducted extensive studies on the disease, leading to its eponymous designation.
Is muscular dystrophy inherited?
Yes, muscular dystrophy is often inherited, although there are also cases where it can occur sporadically due to genetic mutations. It is commonly passed down in families through a faulty gene that affects muscle function and strength. There are several different types of muscular dystrophy, each with its own inheritance pattern.
How can you spot muscular dystrophy?
Muscular dystrophy may present with symptoms such as muscle weakness, poor coordination, progressive muscle wasting, and difficulty with tasks that require muscle strength. A diagnosis typically involves a physical examination, genetic testing, and muscle biopsy to confirm the condition. If you suspect someone has muscular dystrophy, it's important to consult a healthcare professional for an accurate diagnosis and appropriate management.
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies.
A:A very simple explanation of Duchenne Muscular Dystrophy (DMD)Duchenne Muscular Dystrophy is an X chromosome-linked, inherited, progressive, muscle wasting disease, which affects approximately one out of 3,500 male children.
For explaining the nature of Duchenne Muscular Dystrophy (DMD), we might start with the chromosomes.
Chromosomes are specifically folded DNA molecules. We speak of chromosomes rather than DNA, because in this form the DNA molecules are visible under the microscope, therefore, distinguishable from each other.
In normal circumstances we have 46 nuclear chromosomes. In certain conditions, such as cancer (for example in cancerous 'HeLa cells'), the number of chromosomes could be different. The 46 chromosomes include 2 sex chromosomes as well. We inherit 23 nuclear chromosomes (22 plus 1 sex chromosome) from each of our parent.
Females have two X chromosomes (XX), males have one X and one Y (XY). They each contribute one to their child. Since the mother has two X-es, she passes down one X, therefore the father's chromosomes decides the child's sex.
Duchenne muscular dystrophy arises from the mother's defective sex chromosome. The disease is a recessive trait, meaning only one of the mothers' two XX sex chromosomes is defective and the other X chromosome is able to compensate.
For this reason, if she passes the disease-carrying chromosome to her daughter, the daughter's disease-free paternal X chromosome would compensate. The girl will carry, and potentially be able to pass, the faulty chromosome to her child/children, but, she, herself, will not be at all, or just mildly, affected.
If, however, her son gets the disease-carrying chromosome, he will not have that opportunity; due to his Y chromosome from his father, he cannot compensate. Unfortunately, he will get the full-blown disease.
While the majority of the disease are inherited from the mother, as detailed above, 'spontaneous mutations', when the damage to the gene happens in the male child, is also possible.
So, what is the role of the X chromosome in that disease?
The long DNA molecules, therefore their tightly packed forms, the chromosomes, have specific areas, called 'genes'. Every chromosome has its 'own' specific genes on their 'own' specific areas. Those genes have the 'blueprints', the instructions, for the body to build proteins. Proteins are compounds, specific substances, which are essential to life; they are vital for every function, feature, and aspects of the body.
If a gene is faulty, inherited from either or both parents, (Duchenne muscular dystrophy is inherited only from the mother), or damaged/changed by environmental factors (like radiation, chemicals, or others), also by life style (smoking for example), then it cannot provide a correct instruction to assemble a properly working protein.
The fault arise from mistakes in the instruction; some parts are missing, others are repeated, and some are changed. It is like someone is building a cupboard. If the instruction gives the wrong dimensions for some parts or even omit some others parts, then it would be impossible to build a proper cupboard.
Neither can the body assemble the protein, called 'dystrophin', from the improper instruction given by the defective Dystrophin gene of the X-chromosome.
Dystrophin is a muscle protein with mechanical and protective functions. It might involve in cell to cell communications, as well. Due to the lack of dystrophin protein the muscles became weaker, damage easily, and gradually break down, waste away.
Symptoms (difficulty in sitting unaided, delayed start for walking, frequent stumbling and falling, difficulty in getting up, for example), could start to appear as early as one year of age, and the disease quickly progresses to the stage when the child needs a wheelchair (around 8-12 years of age).
Since the disease weakens not only the skeletal muscles, but all muscles, heart rhythm and the pumping ability of the heart are also affected. Likewise, breathing becomes difficult and needs assistance as the disease progresses to those involved muscles.
Lifespan, unfortunately, is not expected to extend beyond 30 years. Cure is not possible at the present.
Treatments are aimed to delay the wastage, steroid medication (with Vitamin D and calcium supplement to counteract its possible bone weakening side-effect), physiotherapy, and water exercises, possibility of low frequency electrical muscle stimulation, among others.
Improving the quality of the patients' life includes corrective bone surgery (bone deformities occurs frequently) to improve posture and comfort, braces, use of wheelchair (manual then electric), heart medications/treatments, assistance with breathing (ventilator, masks, others), - education/information/help to parents and carers, for example.
Research is ongoing, internationally, on several possible aspects; a few examples are:
· 'Gene bandage', specifically designed for the protein assembling process to 'skip over' the faulty segment of the gene, enabling the production of dystrophin,
· Implantation of stem cells,
· 'utrophin-based therapy', Utrophin is another muscle protein with similar function. Research going on to use it for compensate for the lack of dystrophin,
· Researching a drug (recently trialled in Diabetes Type 2 research, as well), which, also, could increase the level of HSP72 (a specific protein). HSP72 expected to improve muscle function, decrease muscle break down, and increase lifespan by 20 %,
· and an older research into low frequency electrical muscle stimulation.
Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move.
How often does muscular dystrophy occur?
Muscular dystrophy (MD) encompasses a group of genetic disorders that lead to progressive muscle weakness and degeneration. The most common form, Duchenne muscular dystrophy (DMD), affects approximately 1 in 3,500 male births. Other types of muscular dystrophy have varying prevalence rates, but overall, MD collectively affects about 1 in 5,000 to 1 in 10,000 individuals. The exact frequency can vary based on the specific type and population studied.
