This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Learn more orphan products. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.
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If you do not want your question posted, please let us know. Submit a new question. Are there any other diseases with the same symptoms as Duchenne muscular dystrophy? Can Silver-Russell syndrome mimic 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. Usually, the lower external muscles are affected before the upper external muscles. The affected child might have difficulty jumping, running, and walking. Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis an inward curve of the spine. Later on, the heart and respiratory muscles are affected as well.
Progressive weakness and scoliosis result in impaired pulmonary function, which can eventually cause acute respiratory failure. DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the s, but until the s, little was known about the cause of any kind of muscular dystrophy. In , the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier.
DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do. Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood. Until relatively recently, boys with DMD usually did not survive much beyond their teen years.
Thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married, and have children. Read more about treating MD. MD can affect you emotionally, as well as physically. Support groups and organisations may help you understand and come to terms with your condition. They can also provide useful advice and support for those who care for people with MD.
Ask your GP or other healthcare professionals treating you about local support groups. You can opt out of the register at any time. Page last reviewed: 20 July Next review due: 20 July What causes muscular dystrophy? Types of muscular dystrophy There are many different types of MD, each with somewhat different symptoms.
Who's affected by muscular dystrophy? In the UK, around 70, people have MD or a related condition. Diagnosing muscular dystrophy Many different methods can be used to diagnose the various types of MD.
Diagnosis will involve some or all of the following stages: investigating any symptoms discussing any family history of MD physical examination blood tests electrical tests on the nerves and muscles a muscle biopsy where a small tissue sample is removed for testing See a GP if you or your child has any symptoms of MD.
Treating muscular dystrophy There's no cure for MD, but a range of treatments can help with the physical disabilities and problems that may develop.
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