What are the symptoms of muscular dystrophy?
Muscle weakness remains the prime symptom of muscular dystrophy. Depending on the type, the onset of disease varies. Other common signs of muscular dystrophy include:
What is muscular dystrophy?
Muscular dystrophies are a group of genetic diseases causing progressive weakness and loss of muscle mass. There are more than 30 types of muscular dystrophy that result in muscle weakness. Over time, the muscles get weaker, disturbing the gait (a person’s manner of walking) and the ability to perform daily activities.
Some forms of muscular dystrophy may be present at birth and develop during childhood, while other forms develop during adulthood. Muscular dystrophy can be hereditary.
What are the different types of muscular dystrophy?
Here are the different types:
- Duchenne Becker (DMD): The onset of this type is between the ages of two and five years. It occurs due to a mutation in the gene for a muscle protein called dystrophin. DMD is the most common form of muscular dystrophy.
- Becker (BMD): It is the second most common form of muscular dystrophy and affects the hip, thigh, and shoulder muscles. The symptoms and causes are similar to DMD. BMD symptoms begin later in life and generally are less severe as compared to DMD.
- Myotonic dystrophy: In this type, the person faces difficulty in relaxing their muscles. It typically begins between 10-30 years of age but can affect people of all ages. It can affect the heart and lungs.
- Limb-Girdle muscular dystrophy: This type of muscular dystrophy affects the muscle of the shoulders and hips. It affects people of all ages and approximately affects two out of 100,000 people in the U.S.
- Facioscapulohumeral muscular dystrophy: It is the third most common form of muscular dystrophy. The disease affects muscles in the face, shoulder blades, and upper arms. The onset of this type is before 20 years of age.
- Congenital muscular dystrophy: This may be present at birth resulting in weak muscles, curved spine, and stiff or loose joints in infants. Children may also face learning disabilities, seizures, and vision problems.
- Distal muscular dystrophy: This type of muscular dystrophy typically begins in adulthood. It affects the feet, hands, lower legs, and lower arms. It can also affect the heart
- Oculopharyngeal muscular dystrophy: It is the rare form of muscular dystrophy that affects the muscles in the eyelid and throat. The symptoms such as droopy eyelids (ptosis) and difficulty swallowing usually appear between the 40s and 60s.
- Emery-Dreiffuss muscular dystrophy: It mostly affects children. Children may experience weak shoulders, upper arms, and calf muscles, by the age of 10.
Most of the muscular dystrophy occurs due to genetic mutations. One or both parents may pass faulty genes to the child. Idiopathic muscular dystrophy or dystrophy with an unknown cause is rare.
Who might get muscular dystrophy?
Muscular dystrophy often runs in families. A child may inherit the mutated genes from one or both the parents. Parents with mutated genes and without muscular dystrophy may pass the genes to the child, thus increasing the risk of developing the disease.
Top Muscular Dystrophy Types & Causes of Each Form Related Articles
Amondys 45 (casimersen)Amondys 45 (casimersen) is an antisense oligonucleotide indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping. Side effects of Amondys 45 include upper respiratory tract infection, cough, fever, headache, joint pain, mouth and throat pain, ear pain, ear infection, nausea, post-traumatic pain, dizziness, and lightheadedness.
atalurenAtaluren is an investigational drug used to delay disease progression in ambulatory patients with Duchenne muscular dystrophy (DMD), a progressive and fatal neuromuscular disease. The medication is not yet approved by the FDA and is not available in the U.S. Common side effects of ataluren include headache, nausea, vomiting, diarrhea, upper abdominal pain, gas (flatulence), abdominal discomfort, constipation, decrease in appetite, increase in cholesterol and triglyceride levels in blood, fever (pyrexia), ear infection, red rash (erythematous rash), feeling unwell (malaise), weight loss, high blood pressure (hypertension), and others.
coenzyme Q10Coenzyme Q10 is a nutrient and dietary supplement used to reduce symptoms and improve outcomes in many cardiovascular conditions including congestive heart failure, heart attack (myocardial infarction), chest pain (angina) and high blood pressure (hypertension), and many other conditions such as mitochondrial diseases, muscular dystrophies and statin-induced muscle pain (myalgia). Side effects of coenzyme Q10 include nausea, vomiting, diarrhea, heartburn, abdominal discomfort, reduced appetite, allergic skin rashes, elevated liver function test results, and lowering of blood pressure. Do not take if breastfeeding.
Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
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Emflaza (deflazacort)Emflaza (deflazacort) is a prescription medicine used to treat the symptoms of Duchenne Muscular Dystrophy. Serious side effects of Emflaza include hives, difficulty breathing, swelling of your face, lips, tongue, or throat; mood changes, eye pain, excess thirst, increased appetite, increased urination, tiredness, blurry vision, and others.
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What Is Muscular Dystrophy?There are more than 30 types of muscular dystrophy that cause progressive muscle weakness, including Duchenne Becker (DMD), Becker (BMD), and more. Muscular dystrophy symptoms also include scoliosis (sideways curved spine), difficulty in walking or running, dysphagia (difficulty swallowing), muscle pain, breathing problems, and others.
omaveloxoloneOmaveloxolone is an oral medication used in the treatment of Friedreich’s ataxia, an inherited, genetic, neurodegenerative disorder that affects parts of the nervous system. Common side effects of omaveloxolone include elevated liver enzymes ALT and AST, headache, nausea, vomiting, abdominal pain, diarrhea, reduced appetite, fatigue, musculoskeletal pain, mouth and throat (oropharyngeal) pain, muscle spasms, and others.
Viltepso (viltolarsen)Viltepso (viltolarsen) is an antisense oligonucleotide used to treat Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping. Nephrotoxicity has occurred with drugs similar to Viltepso. Side effects include upper respiratory tract infection, injection site reactions (bruising, redness, swelling), cough, fever, bruising, joint pain, diarrhea, vomiting, abdominal pain, ejection fraction decreased, and hives.
What Are the Symptoms of Myopathy?The most common symptoms of myopathy are weakness and impaired daily functions or activities, as well as muscle pain and tenderness. General signs and symptoms of myopathy include symmetric proximal muscle weakness, fatigue and malaise, motor delay, bulbar muscle dystrophy (dysfunction of the swallowing and speech muscles), myoglobinuria (dark-colored urine) and/or fever, no paresthesia (sensory impairments), atrophy and hyporeflexia, consciousness at normal levels, and Gottron papules (dermatomyositis) over the knuckles, elbows, and knees.
What Is an X Mutation?X-linked refers to any ailment that has an X chromosomal connection. Mammals normally have two copies of the X chromosome in females and one in males, which is referred to as a sex chromosome. Compared to the Y chromosome, which has only about 70 protein-coding genes, the X chromosome in humans contains about 800 protein-coding genes. The genes located in the X chromosome are referred to as X-linked genes.
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