Table of ContentsView AllTable of ContentsWhen Symptoms BeginPhysical SymptomsProgressive SymptomsSigns Parents May NoteDiagnosisManaging Symptoms
Table of ContentsView All
View All
Table of Contents
When Symptoms Begin
Physical Symptoms
Progressive Symptoms
Signs Parents May Note
Diagnosis
Managing Symptoms
Duchennemuscular dystrophy (DMD)is a genetic disorder that causes muscle weakness and wasting. This leads to changes in joint and bone structure, which can affect organs such as the lungs and lead to an array of other symptoms.
While othermuscular dystrophiescan appear in adults later in life, DMD affects people from birth. Babies born with DMD begin to show signs of disease during their first two years of life. Early symptoms of muscle weakness begin in the arms and legs, causing delays in gross motor skills such as walking.
In this article you will learn about DMD symptoms—when they begin, types of progressive and chronic symptoms, how parents and specialists can identify symptoms, and how to manage symptoms and treatment side effects.
A Note on Gender and Sex TerminologyVerywell Health acknowledges thatsex and genderare related concepts, but they are not the same. To reflect our sources accurately, this article uses terms like “female,” “male,” “woman,” and “man” as the sources use them.
A Note on Gender and Sex Terminology
Verywell Health acknowledges thatsex and genderare related concepts, but they are not the same. To reflect our sources accurately, this article uses terms like “female,” “male,” “woman,” and “man” as the sources use them.
When Do Duchenne Muscular Dystrophy Symptoms Begin?
Evidence of DMD can appear as early as 2 to 3 months of age. Babies with DMD may fail to meet early milestones such as head control. However, it often takes time to differentiate these symptoms of DMD from other developmental delays.
With early symptoms, there is no muscle wasting or weakness, but there are developmental delays. It isn’t until more classic signs of the disease develop that DMD will be suspected.
If babies continue to fail to meet milestones, such as sitting independently or walking as they grow, a healthcare provider might look for other typical signs of DMD.
Physical DMD Symptoms in Children
Symptoms of DMD in children involve muscle loss and weakness. These symptoms include:
A Word From VerywellA parent is their child’s greatest advocate. If you have concerns about your child’s development that you don’t see being addressed, there is great utility in second opinions and specialty clinics.—NICHOLAS R. METRUS, MD, MEDICAL EXPERT BOARD
A Word From Verywell
A parent is their child’s greatest advocate. If you have concerns about your child’s development that you don’t see being addressed, there is great utility in second opinions and specialty clinics.—NICHOLAS R. METRUS, MD, MEDICAL EXPERT BOARD
A parent is their child’s greatest advocate. If you have concerns about your child’s development that you don’t see being addressed, there is great utility in second opinions and specialty clinics.
—NICHOLAS R. METRUS, MD, MEDICAL EXPERT BOARD
Progressive and Chronic DMD Symptoms
As children age, DMD symptoms progress and may cause complications. Progressive and chronic DMD symptoms include:
Complications and Emergency Symptoms
In some cases, DMD can cause complications that require emergency medical attention. Often, these are related to the lungs and heart.
As muscle loss and weakness affect the area around the lungs, people with DMD become more at risk for serious infections, such aspneumonia. They may also need help with breathing and coughing. This can lead to an emergency where assisted ventilation is necessary for survival.
How Parents Could Identify DMD Signs
Parents often sense if there is something not quite right with their child. When thinking back, parents who have children with DMD recall seeing signs around 6 months, even though the diagnosis didn’t occur until the ages of 3 to 5.
In some cases, parents were dismissed as being overly worried. However, that should never deter you from voicing your concerns. If you notice any signs of DMD, such as failing to meet early milestones, bring them up to your child’s provider.
DMD is a rare disease. Most children who fail to meet milestones will not have DMD. However, parents who suspect their child may have DMD should note their concerns.
Signs of DMD that parents can identify and discuss with their child’s healthcare provider include:
How Specialists Identify DMD Symptoms
Specialists will look for many of the same signs parents can identify. Researchers have noted that some early delays can be signs of DMD in infants. These include:
Around age 3 to 4 a specialist will begin to look for the following more classical symptoms:
If DMD is suspected, a specialist can also run blood tests. A blood test to checkcreatine kinase(an enzyme found in the muscles) levels is very telling.
Elevated creatine kinase levels are associated with DMD. If levels are elevated, a specialist can investigate further. The specialist may order genetic tests and muscle biopsies (removing a sample of tissue for analysis in a lab) to confirm or rule out DMD.
Managing DMD Symptoms and Treatment Side Effects
While there is no cure for DMD there aretreatment optionsto help alleviate symptoms and improve quality of life. The standard protocol for treating DMD focuses on the muscles, heart, and lungs.
Corticosteroids are prescribed to help muscle function and delay the need for a wheelchair and effects of the disease on the heart. Physical therapy can also help people with DMD remain mobile for longer.
As respiratory function decreases, non-invasive ventilation methods are used to help with breathing.
Medications such asangiotensin-converting enzyme (ACE) inhibitorsand beta-blockers can help with DMD’s effects on the heart.
While effective, long-term use of corticosteroids can lead to side effects such as weight gain,osteoporosis(progressive loss of bone mineral density and bone mass), bone fractures, and behavioral changes. Physical therapy can help people on these medications to remain as mobile and strong as possible to avoid weight gain and effects on the bones.
Other medications and therapies are being researched that address the genetic component of the disease and show promise in slowing progression.
Summary
Duchenne muscular dystrophy is an X-linked genetic disorder that almost exclusively affects males and causes muscle loss and weakness. DMD is a progressive disease diagnosed within the first 3 to 5 years of life.
Symptoms of DMD include difficulty sitting independently, walking, running, and standing, delayed speech, and weakness in the upper arms and legs. As the disease progresses, other symptoms arise, including scoliosis, joint contractures, cardiomyopathy, and difficulty breathing.
By the age of 10 to 12, most people with DMD will need a wheelchair. When DMD affects the lungs and heart, emergencies can arise due to a lack of oxygen or heart failure.
Parents of children with DMD often note delayed milestones and other classic signs, such as difficulty walking or going up stairs. Specialists examine these and conduct further testing to determine whether someone has DMD.
Standard treatment for DMD includes corticosteroids and physical therapy, but treatment options are being researched that show promise in delaying the progression of the disease.
9 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Genetic and Rare Diseases Informational Center.Duchenne muscular dystrophy. February 2024.
Bez Batti Angulski A, Hosny N, Cohen H, et al.Duchenne muscular dystrophy: disease mechanism and therapeutic strategies.Front Physiol. 2023;14:1183101. doi:10.3389/fphys.2023.1183101
Van Dommelen P, van Dijk O, de Wilde JA, Verkerk PH.Early developmental milestones in Duchenne muscular dystrophy.Dev Med Child Neurol. 2020;62(10):1198-1204. doi:10.1111/dmcn.14623
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National Organization for Rare Disorders.Duchenne muscular dystrophy - symptoms, causes, treatment. March 25, 2024.
Bendixen RM, Houtrow A.Parental reflections on the diagnostic process for Duchenne muscular dystrophy: a qualitative study.J Pediatr Health Care. 2017;31(3):285-292. doi:10.1016/j.pedhc.2016.09.002 linking to PMC for full text, not available at doi link
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