A male with an X-linked recessive condition cannot pass on the disorder to his sons, but all of his daughters will be carriers. While, most female carriers have no signs or symptoms of the condition, in rare cases, female carriers may experience some mild signs or symptoms.Ī female who carries one X-linked gene alteration has a 50% or 1 in 2 chance of having a son with the condition and a 50% chance of having a daughter who is also a carrier. Females, who have one altered gene, are called carriers. X-linked recessive conditions affect males much more frequently than females. In males (who have only one X chromosome), one altered copy of the gene is enough to cause the condition. X-linked means that the gene for the condition is located on the X- chromosome, one of the sex chromosomes. ĭuchenne muscular dystrophy (DMD) is inherited in an X-linked recessive pattern. Learning and memory issues (cognitive impairment) may occur in some cases, but do not worsen as DMD progresses. Breathing problems and progressive enlargement of the heart may become life-threatening. Scoliosis and tight joints ( contractures) may develop as muscle loss gets worse. Breathing problems occur due to weakness of the diaphragm and the other muscles around the lungs. By the early teens, most boys with DMD are using a wheelchair. Developmental milestones such as sitting and walking are often delayed.
The first symptoms of DMD usually occur in boys in early childhood, and include muscle weakness and clumsiness. Progressive enlargement of the heart ( cardiomyopathy).Using hands to get up off the floor (Gower's maneuver).Muscle weakness that gets worse over time.Enlarged calf muscles (pseudohypertrophy).Delayed motor development (taking longer to learn to sit, stand, or walk).This list does not include every symptom or feature that has been described in this condition. Some people may have more symptoms than others and symptoms can range from mild to severe.
These features may be different from person to person. The following list includes the most common signs and symptoms in people with Duchenne muscular dystrophy (DMD). īecker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene.
While there is no known cure for DMD, there are treatments that can help control symptoms. The result of genetic testing may also help confirm the diagnosis. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. DMD is caused by genetic changes ( DNA variants) in the DMD gene. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications. Most children with DMD use a wheelchair by their early teens. Muscle weakness is usually noticeable in early childhood. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. DMD occurs primarily in males, though in rare cases may affect females. Listen Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. Table of Contents expand submenu for Table of Contents.Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos.Consejos Para Obtener Ayuda Financiera Para Una Enfermedad.Consejos Para una Condición no Diagnosticada.Como Encontrar un Especialista en su Enfermedad.Preguntas Más Frecuentes Sobre Enfermedades Raras.Guías de Información expand submenu for Guías de Información.En Español expand submenu for En Español.About GARD expand submenu for About GARD.Teachers and Students expand submenu for Teachers and Students.Researchers expand submenu for Researchers.Caring for Your Patient with a Rare Disease.Healthcare Professionals expand submenu for Healthcare Professionals.Patients, Families and Friends expand submenu for Patients, Families and Friends.Find Diseases By Category expand submenu for Find Diseases By Category.
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