What type of genetic disorder is duchenne muscular dystrophy

See answer. I am a carrier of Duchenne muscular dystrophy. I am experiencing some symptoms which I believe go beyond the realm of aging. Upon reflection, other women in my family also experienced symptoms, including loss of feeling in the legs and heart failure.

Can carrier females of Duchenne muscular dystrophy exhibit symptoms? National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Duchenne muscular dystrophy. You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. This disease is grouped under:. Muscular dystrophy. Summary Summary. Symptoms Symptoms.

The following list includes the most common signs and symptoms in people with Duchenne muscular dystrophy DMD. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. Symptoms may include: [1] [6] Delayed motor development taking longer to learn to sit, stand, or walk Enlarged calf muscles pseudohypertrophy Muscle weakness that gets worse over time Toe walking or waddling gait Using hands to get up off the floor Gower's maneuver Progressive enlargement of the heart cardiomyopathy The first symptoms of DMD usually occur in boys in early childhood, and include muscle weakness and clumsiness.

Developmental milestones such as sitting and walking are often delayed. By the early teens, most boys with DMD are using a wheelchair. Breathing problems occur due to weakness of the diaphragm and the other muscles around the lungs. Scoliosis and tight joints contractures may develop as muscle loss gets worse. Breathing problems and progressive enlargement of the heart may become life-threatening.

Learning and memory issues cognitive impairment may occur in some cases, but do not worsen as DMD progresses. Showing of 31 View All. Increased size of calf muscles. Disease of the heart muscle. Abnormality of cognition. Cognitive abnormality. Cognitive defects. Cognitive deficits. Intellectual impairment. Mental impairment. Deficiency of speech development. Delayed language development.

Delayed speech. Delayed speech acquisition. Delayed speech development. Impaired speech and language development. Impaired speech development. Language delay. Language delayed. Language development deficit. Late-onset speech development. Poor language development. Speech and language delay. Speech and language difficulties. Speech delay. Elevated blood creatine phosphokinase.

Elevated circulating creatine phosphokinase. Elevated creatine kinase. Elevated serum CPK. Elevated serum creatine phosphokinase. High serum creatine kinase. Increased CPK. Increased creatine kinase. Increased creatine phosphokinase. Increased serum CK. Increased serum creatine kinase. Increased serum creatine phosphokinase. Flexed joint that cannot be straightened.

Weakness in muscles of upper arms and upper legs. Respiratory impairment. Muscle degeneration. Muscle wasting. Waddling walk. Abnormal ECG. Abnormal heart rate. Heart rhythm disorders. Irregular heart beat. Irregular heartbeat. Symptoms begin in childhood. Cardiac failure. Cardiac failures. Heart failure. Stretched and thinned heart muscle. Decreased muscle tone. Low muscle tone. Prominent swayback. Decreased reflex response. For this reason, diseases such as DMD have continued to occur at relatively low frequencies in the human population.

Hastings took a mathematical modeling approach to show how modern reproductive technologies have the opposite effect: They often result in an increased frequency of sex-linked, disease-causing mutations in a population. This is because, as Hastings argues in his paper, if a woman decides to terminate her pregnancy and then in the future tries to give birth to an unaffected child, a one-in-three chance exists that the next child will be a female carrier meaning a daughter with one disease allele.

So, instead of natural selection removing a mutation from the population, the population would actually gain a mutation. Over time, with many parents making this decision, the number of X-linked, disease-associated recessive mutations in the population would actually increase. Although easing their own family burden, parents could simultaneously contribute to an increased frequency of deleterious X-linked mutations in the population at large.

It is debatable, however, whether this creates a problem for society, because even though the frequency of the lethal mutations would increase, the number of babies born with DMD would decrease. In fact, based on the results of his mathematical simulations, Hastings argues that the only circumstance under which the number of babies born with lethal recessive X-linked mutations would actually increase, along with the frequency of the mutation itself, is when parents decide not to terminate a pregnancy, whether they have undergone prenatal testing or not, and instead practice another form of family planning.

Specifically, parents who decide to let all pregnancies come to term and then, in the event of a baby being born with a fatal sex-linked disease, later "compensate" by having another child, contribute in the same way to the increasing population frequency of the disease allele; remember, there is a one-in-three chance that the next child will be a female carrier.

By not terminating the pregnancy, the parents contribute to the number of babies being born with the disease. Hastings's modeling results have yet to be verified with real data, so questions remain about whether recessive X-linked disease mutations are indeed increasing in frequency in populations in which these three reproductive technologies or behaviors prenatal genetic testing, embryo sexing, or family planning are being used on a widespread basis.

Even then, questions would remain about whether the observed numbers were a direct or an indirect result of the widespread use of diagnostic tests; in other words, whether the diagnostic testing actually affects population structure, as Hastings predicts, or simply makes it easier to detect mutations that were previously undetectable Casci, Casci, T.

Reproductive technologies: A long-term cost. Nature Reviews Genetics 2 , doi Chelly, J. Monogenic causes of X-linked mental retardation. Nature Reviews Genetics 2 , — doi Hastings, I. Reproductive compensation and human genetic disease.

Genetic Research 77 , — Khurana, T. Pharmacological strategies for muscular dystrophy. Nature Reviews Drug Discovery 2 , — doi: Epigenetic Influences and Disease. Birth Defects: Causes and Statistics. Birth Defects: Prevention and Treatment. Copy Number Variation and Genetic Disease. Genetic Causes of Adult-Onset Disorders.

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Gleevec: the Breakthrough in Cancer Treatment. Human Chromosome Translocations and Cancer. Proto-oncogenes to Oncogenes to Cancer. Cytogenetic Methods in Diagnosing Genetic Disorders. On Sept. On Feb. Skip to main content. Search MDA. Search Donate. What causes DMD? What is the life expectancy in DMD? What is the status of DMD research?

Parsippany, NJ. Ryder, S. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review. Orphanet Journal of Rare Diseases Pediatrics Looking for more information, support or ways to get involved?