A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus.
A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.
Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders.
Distal myopathy (or distal muscular dystrophy) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles.
Some examples include: Distal myopathy with vocal cord and throat (pharyngeal) weakness affects the hands, legs, and voice. It may cause difficulty swallowing. It usually happens between ages 35 and 60.
Symptoms of Myopathy
If you have a muscle disease, you may experience weakness, most likely in the thighs and upper arms. It can become difficult to climb stairs, rise from a chair, or lift your arms above your head. Cramping, stiffness, and soreness can also occur.
Inflammatory/autoimmune myopathy occurs when the body starts to attack the muscle tissue and/or impedes muscle function. Autoimmune conditions such as sarcoidosis, lupus, and rheumatoid arthritis can all contribute to this type of myopathy.
Myopathy is not a common condition. However, many individuals diagnosed with myopathy are able to maintain productive lives with a consistent, holistic treatment plan. Genetic and Rare Diseases Information Center (NIH).
Distal myopathy with vocal cord and pharyngeal weakness
Symptoms first appear between about 35 and 60 years of age and include weakness of the hands, legs or voice. Difficulty in swallowing may be a feature.
Becker muscular dystrophy relates to late-onset and slow progression muscle dystrophy caused by deletions or duplications in the dystrophin gene. Individuals with this type of tardive slow progression have a life expectancy of 60 years.
Myopathies are a heterogeneous group of disorders primarily affecting the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness interfering in daily life activities. Muscle pain is also a common finding and some myopathies are associated with rhabdomyolysis.
Bulbar muscle dysfunctions can be especially apparent in congenital myopathies (those present from birth), and can result in severe impairments to swallowing and speech abilities. Congenital myopathies also are characterized by developmental motor delays and, at times, facial or skeletal abnormalities.
Kaplan–Meier analysis revealed that compared with patients without myopathy, those with myopathy had lower 3-year (97.7% vs 98.8%), 5-year (95.1% vs 97.8%), and 10-year (81.4% vs 94.1% survival rates; P = 0.028), calculated using the log-rank test (Fig.
Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years.
Description. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood.
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles , which are used for movement, and the heart (cardiac) muscle .
Doctors use a blood test to look for elevated levels of a substance called creatine kinase, which is released into the bloodstream when muscle fibers deteriorate. Elevated levels may mean you have an inflammatory myopathy.
Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well.
Inflammatory Myopathies
The diagnosis is based on a typical clinical presentation, elevated serum skeletal muscle enzymes, and findings on electromyography and muscle biopsy. MRI accurately documents the extent and intensity of the muscle abnormalities.
Exercise and physical therapy are important parts of standard myositis treatment plans. Physical exercise has been shown to reduce inflammation, reduce fatigue, increase stamina, and build muscle, even in patients with myositis.
Intravenous Immunoglobulin. Immunoglobulin, or antibodies, derived from the plasma of donated blood are sometimes used to treat people with inflammatory myopathies. These antibodies destroy bacteria and viruses, but they can also fight cells that are attacking the body.
There are many causes of myopathy, including those due to inflammation in the muscles themselves (polymyositis, dermatomyositis and inclusion body myositis). Myopathies can also be caused by various medical diseases and even by certain drugs, such as those that are used to control elevated blood cholesterol.
Patients with dermatomyositis, polymyositis, or necrotizing myopathy are usually treated by rheumatologists. Those with dermatomyositis may also work with a dermatologist.
Many drugs can induce vacuolar myopathy (colchicine, chloroquine, amiodarone, cyclosporin, drugs causing hypokalaemia and lipid-lowering agents), some others cause a mitochondrial myopathy (zidovudine) or a necrotizing myopathy as seen with vincristine.