What Is Muscular Dystrophy?
Muscular dystrophy is a type of disease that causes the muscles in your body to lose strength and mass. As your muscles become weaker over time, it may be hard for you to do normal activities.
Depending on the type of muscular dystrophy you have, you may have problems walking, breathing, or swallowing. Many types of muscular dystrophy start showing symptoms during childhood, but muscular dystrophy can develop at any age.
There is no cure, but medication and therapy can help manage the worst symptoms and can help make daily activities easier.
Muscular Dystrophies We Treat
Duchenne Muscular Dystrophy (DMD) is a genetic disorder that prevents your muscles from working correctly. Over time, it can make normal, day-to-day activities hard. It is the most well-known type of muscular dystrophy, and can also cause heart problems and obesity.
Becker Muscular Dystrophy (BMD) is similar to Duchenne’s Muscular Dystrophy but is usually less severe.
Emery-Dreifuss Muscular Dystrophy (EDMD) usually affects the muscles in the upper arms and lower legs first. It is a less common type of muscular dystrophy.
Facioscapulohumeral Dystrophy (FSHD) affects the muscles in your face, shoulders, upper arms, and lower legs. It can also affect the muscles in your eyes, ears, and heart. Patients usually start experiencing muscle weakness by the time they turn 20 years old.
Limb–Girdle Muscular Dystrophy (LGMD) can show signs from early childhood to late into the adult years. It weakens the muscles in your shoulders and hips but can also affect your heart and diaphragm.
Oculopharyngeal Muscular Dystrophy (OPMD) is different from other types of muscular dystrophy disorders because it usually doesn’t affect people until they are over 40 years old. It weakens the muscles in the face, especially around the eyes. It is a very rare disorder.
Myotonic Muscular Dystrophy
Type 1 MMD (MMD1) is the most common type of muscular dystrophy that doesn’t start showing signs until the adult years. It usually affects the muscles in your face, neck, arms, and hands. It can cause slurred speech and temporarily cause your jaw to lock.
Type 2 MMD (MMD2) is similar to type 1 MMD and shares most of the same symptoms. However, type 2 is usually less severe.
Hereditary neuropathies are a type of genetic disorder that affect your peripheral nervous system, the nervous system that does not control the brain and spinal cord. Hereditary neuropathies usually affect the muscles in your arms, legs, hands, and feet.
Types of Hereditary Neuropathies
Charcot Marie Tooth Disease is a genetic disorder that affects the nerves that make your feet, legs, hands, and arms work normally. The disease weakens your motor and sensory nerves, which carry signals (or instructions) to your brain.
Spinal Muscular Atrophy (SMA) weakens your muscles. It affects motor neurons in your spinal cord. Motor neurons are nerve cells that communicate messages to your brain and allow your muscles to work normally.
Friedreich’s Ataxia first affects the muscles in your legs and then spreads upward towards your arm and chest muscles, making it hard to walk. It can also cause hearing and vision loss. It is very rare and usually begins developing during childhood or the teen years.
Spinal-Bulbar Muscular Atrophy weakens the muscles in your face and throat (bulbar muscles), arms, and legs. The disorder damages motor neurons, the nerve cells in your spinal cord and brain. It usually starts showing signs during adulthood.
Congenital Muscular Dystrophies & Myopathies
If you have congenital muscular dystrophy, you have had it since you were born. It is a type of muscular dystrophy that is inherited, meaning that parents can pass the disease onto their children through their genes.
Myopathies cause problems in how your skeletal muscles contract and move. Skeletal muscles let you control voluntary movements like walking, sitting, and chewing.
Types of Congenital Muscular Dystrophies & Myopathies
Merosin Deficient Congenital Muscular Dystrophy causes severe muscle weakness and loss of muscle strength. Most people with Merosin Deficient Congenital Muscular Dystrophy are born with the disorder because their LAMA 2 gene has a mutation, or change, that’s different from other people. Many people with the disorder will need special devices to help their muscles move correctly.
Collagen VI Related Muscular Dystrophies are types of disorders caused by mutations (or differences) in collagen genes in the body. These genes include COL6A1, COL6A2, and COL6A3. Bethlem and Ullrich are two types of this disorder.
Laminopathy is a broad category of disorder caused by mutations, or abnormal changes, in the LMNA gene.
Nemaline Myopathies cause muscle weakness, most often in the muscles in the face, neck, and limbs. These types of disorders are caused by mutations (changes) in the following genes: ACTA1, KBTBD13, CFL2, KLHL40, NEB, TNNT1, TPM2, and TPM3.
Centronuclear Myopathy is a disorder that causes muscle weakness and can start showing symptoms from birth to the early adults years. People with this condition may also have droopy eyelids, abnormally shaped feet, or a spine that abnormally curves from side to side. Mutations (or changes) in the BIN1, DNM2, and MTM1 genes cause this disorder.
A channelopathy is a type of disease that makes it hard for you to control how your muscles move. Channelopathies happen when small molecules inside your cell - called ions - don't work the way they should.
Types of Channelopathies
Myotonia Congenita weakens your skeletal muscles, the muscles you use to move your arms, legs, and other parts of your body. Myotonia can affect any muscles in your body, but it most often affects the leg muscles. The two main types are Thomsen disease and Becker disease.
Paramyotonia Congenita, also called Eulenberg disease, usually starts in infancy or childhood. It causes muscle stiffness and prevents muscles from relaxing. Muscle stiffness usually gets worse with repeated movements.
Periodic Paralysis Disease causes episodes or periods of muscle weakness. It can also cause dangerous changes in your heart’s rhythm, called arrhythmia. The two most common types of period paralysis are hyperkalemic paralysis and Andersen-Tawil syndrome.
Inflammatory myopathies cause inflammation and weakness in your muscles. These types of diseases can also cause muscle pain.
Types of Inflammatory Myopathies
Polymyositis weakens your hip, thigh, upper arm, and neck muscles. Polymyositis can make it hard to get up from a chair, climb stairs, or lift things over your head. The disease can also make it hard to swallow or breathe.
Dermatomyositis causes muscle weakness in your hips, thighs, and neck. It is similar to polymyositis, but causes a red or purple-colored rash on your knees, elbows, knuckles, or eyelids.
Inclusion Body Myositis slowly and gradually inflames and weakens the muscles in your body. The disease may affect muscles on only one side of your body. It can also make it hard to swallow. Symptoms usually don’t begin to show until after age 50.
Metabolic Muscle Diseases
Metabolic muscle diseases interrupt your body's normal metabolic process of taking energy from your food. These types of diseases change the chemical reactions your metabolism uses to break down sugars, fats, and carbohydrates.
Types of Metabolic Muscle Diseases
Acid Maltase Deficiency (Pompe Disease) interferes with your body’s ability to process carbohydrates, food your body uses for energy. This rare disease affects the muscles in your metabolism.
Carnitine Deficiency makes it difficult for your body to break down or metabolize fats that your body uses for energy, especially when you are fasting.
Carnitine Palmityltransferase Deficiency makes it hard for your body to use (or metabolize) certain fats, especially when you are fasting.
Debrancher Enzyme Deficiency (Cori or Forbes Disease) interferes with your body’s ability to process carbohydrates, food that your body uses for energy. It causes liver damage including liver swelling and low blood sugar levels. Sometimes it can cause seizures.
Lactate Dehydrogenase Deficiency harms your body’s ability to break down (or metabolize) sugar that your cells use for energy. The condition can cause cramps, fatigue, and muscle pain while you’re exercising.
Myoadenylate Deaminase Deficiency interferes with how your cells process a primary energy molecule called adenosine triphosphate (ATP). The disorder can cause cramps and muscle pain during exercise.
Phosphofructokinase Deficiency (Tarui Disease) damages how your body processes carbohydrates, food your body uses for energy. Like other metabolic diseases, it can cause pain and cramps during exercise. It can also cause another condition called myoglobinuria, which causes your urine to turn brown.
Phosphoglycerate Kinase Deficiency makes it difficult for your body to break down glucose. Glucose is a simple sugar that your cells use for energy. This disorder can also cause chronic hemolytic anemia, which can lead to jaundice, shortness of breath, and fatigue.
Phosphoglycerate Mutase Deficiency affects your body’s skeletal muscles, the muscles your body uses to move. It usually starts during the child or teenage years and causes aches or cramps after exercise. It can also cause myoglobinuria, a condition that causes muscles to break down abnormally.
Phosphorylase Deficiency (McArdle Disease) damages how your body metabolizes or breaks down glycogen, an important source of energy for your body. It can cause fatigue, muscle pain, and weakness.
Mitochondrial myopathies are a type of neuromuscular disease that occur when the mitronchria inside your cells become damaged. Mitochondria produce energy for your cells. When your mitochondria don't work properly, your muscles can become weak, especially during certain activities like excercising.
Types of Mitochondrial Myopathies
Kearns-Sayre Syndrome (KSS) usually shows symptoms before individuals people turn 20. It affects the eyes by weakening eye movement and causing drooping eyelids. It can also cause kidney problems, weakness in your limbs, and problems coordinating movements and staying balanced.
Leigh Syndrome (also known as subacute necrotizing encephalomyopathy) and maternally inherited Leigh syndrome (MILS) most often affect infants and young children. These two diseases can cause muscle weakness, kidney problems, and developmental disabilities.
Mitochondrial DNA Depletion Syndrome (MDS) is a genetic disorder that slowly weakens your body’s muscles over time. Most often, symptoms of the disorder will show early in childhood.
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) is a disorder that affects your body’s brain, muscles, and nervous system. Most people with MELAS will experience stroke-like symptoms before age 40.
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a condition that affects many parts of your body, especially the digestive system. It can cause vomiting, nausea, difficulty swallowing, and feelings of fullness while you eat.
Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a disorder that mainly affects your muscles and nervous system. People with this disorder often have very different symptoms from others, even when they are in the same family.
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) causes muscle weakness and pain or tingling in the arms or legs. People with NARP also have problems walking and staying balanced.
Pearson Syndrome damages your body’s ability to break down food properly. It can cause severe diarrhea and can lead to symptoms that seem like Leigh Syndrome.
Progressive External Ophthalmoplegia (PEO) causes the muscles in your eyes and eyelids to work incorrectly. This can cause eye muscle weakness, drooping eyelids, and an inability to move your eye (paralysis).