Miyoshi What????

Miyoshi Myopathy is a rare form of muscular dystrophy which is part of the limb-girdle group of muscular dystrophy. Miyoshi is caused by defects in the gene for the protein dysferlin. It is categorized as a distal muscular dystrophy, which means that the muscles that are most strongly affected initially are in the calves, forearms, hands, or feet. Most other forms of muscular dystrophy primarily begin in proximal muscles (those in the hips, thighs, or shoulders), so those that don't follow that pattern were grouped together for classification purposes. There are many forms of distal myopathy but Miyoshi Myopathy is different from the other distal myopathies in several respects:

 

• It is recessive. This means that in most cases there is no family history.
• The first muscles to be affected are typically the gastrocnemius (the calf muscles in the back of the legs used to stand on tiptoe).
• Onset of symptoms generally occurs between the ages of 15 and 30. There are exceptions to this age range: genetically confirmed cases have been reported in the literature with onset as late as age 73.
• Levels of CK (creatine kinase, a muscle enzyme) in the blood are very high. Values typically found in Miyoshi patients are several thousand, compared to a normal reading of 100 or less. This is typical of some other muscular dystrophies but not most of the distal forms.
• Muscle biopsies show indications of a muscle disease, including degeneration/regeneration of muscle fibers, and often show evidence of inflammation.
• There are typically no symptoms of neuropathy, and tests of nerve conduction generally yield normal results.

There are three genetically identified types of Miyoshi Myopathy - MMD1, MMD2, MMD3.  MMD1 is the type that is caused by mutations in the dysferlin gene.  MMD3 is the type that is caused by mutations in Anoctamin 5. The gene for MMD2 has not yet been identified, but it is known that MMD2 is distinct from MMD1 or MMD3.  These types of Miyoshi Myopathy are indistinguishable clinically and can only be differentiated by the identification of mutations in the particular genes.

 

-The information above was obtained from the Jain Foundation website. For this and more information on Miyoshi Myopathy visit www.jain-foundation.org.

Muscular Dystrophy

My husband has muscular dystrophy and when you have a loved one with a disease like this you soon realize that it is not just that person who is affected. Now of course the brunt of the illness will fall on him but as he deteriorates it will change all of us. This blog will be devoted to raising awareness of the disease and anything that might help those touched by this disease.

Muscular dystrophy is an umbrella term for several hereditary diseases that result in muscle wastage. There are nine main categories of muscular dystrophy including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss. Most types of MD are multi-system disorders with symptoms affecting body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs.

There is no known cure for muscular dystrophy nor any specific course of treatment. Treatment varies as symptoms progress, depending on what areas of the body are being affected. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk rather quickly. The age of diagnosis also varies greatly depending on the type. Below is a quick breakdown of the nine main categories, courtesy of WebMD :

*Myotonic (also called MMD or Steinert's disease). The most common form of muscular dystrophy in adults, myotonic muscular dystrophy affects both men and women, and it usually appears any time from early childhood to adulthood. In rare cases, it appears in newborns (congenital MMD). The name refers to a symptom, myotonia -- prolonged spasm or stiffening of muscles after use. This symptom is usually worse in cold temperatures. The disease causes muscle weakness and also affects the central nervous system, heart, gastrointestinal tract, eyes, and hormone-producing glands. In most cases, daily living isn't restricted for many years. Those with myotonic MD have a decreased life expectancy.
*Duchenne. The most common form of muscular dystrophy in children, Duchenne muscular dystrophy affects only males. It appears between the ages of 2 and 6. The muscles decrease in size and grow weaker over time yet may appear larger. Disease progression varies, but many people with Duchenne (1 in 3,500 boys) need a wheelchair by the age of 12. In most cases, the arms, legs, and spine become progressively deformed, and there may be some cognitive impairment. Severe breathing and heart problems mark the later stages of the disease. Those with Duchenne MD usually die in their late teens or early 20s.
*Becker. This form is similar to Duchenne muscular dystrophy, but the disease is much milder: symptoms appear later and progress more slowly. It usually appears between the ages of 2 and 16 but can appear as late as age 25. Like Duchenne muscular dystrophy, Becker muscular dystrophy affects only males (1 in 30,000) and causes heart problems. Disease severity varies. Those with Duchenne can usually walk into their 30s and live further into adulthood.
*Limb-girdle. This appears in the teens to early adulthood and affects males and females. In its most common form, Limb-girdle muscular dystrophy causes progressive weakness that begins in the hips and moves to the shoulders, arms, and legs. Within 20 years, walking becomes difficult or impossible. Sufferers typically live to middle age to late adulthood.
*Facioscapulohumeral. Facioscapulohumeral refers to the muscles that move the face, shoulder blade, and upper arm bone. This form of muscular dystrophy appears in the teens to early adulthood and affects males and females. It progresses slowly, with short periods of rapid muscle deterioration and weakness. Severity ranges from very mild to completely disabling. Walking, chewing, swallowing, and speaking problems can occur. About 50% of of those with facioscapulohumeral MD can walk throughout their lives, and most live a normal life span.
*Congenital. Congenital means present at birth. Congenital muscular dystrophies progress slowly and affect males and females. The two forms that have been identified -- Fukuyama and congenital muscular dystrophy with myosin deficiency -- cause muscle weakness at birth or in the first few months of life, along with severe and early contractures (shortening or shrinking of muscles that causes joint problems). Fukuyama congenital muscular dystrophy causes abnormalities in the brain and often seizures.
*Oculopharyngeal. Oculopharyngeal means eye and throat. This form of muscular dystrophy appears in men and women in their 40s, 50s, and 60s. It progresses slowly, causing weakness in the eye and face muscles, which may lead to difficulty swallowing. Weakness in pelvic and shoulder muscles may occur later. Choking and recurrent pneumonia may occur.
*Distal. This group of rare diseases affects adult men and women. It causes weakness and wasting of the distal muscles (those farthest from the center) of the forearms, hands, lower legs, and feet. It is generally less severe, progresses more slowly, and affects fewer muscles than other forms of muscular dystrophy.
*Emery-Dreifuss. This rare form of muscular dystrophy appears from childhood to the early teens and affects only males. It causes muscle weakness and wasting in the shoulders, upper arms, and lower legs. Life-threatening heart problems are common and can also affect carriers -- those who have the genetic information for the disease but do not develop the full-blown version (including mothers and sisters of those with Emery-Dreifuss MD). Muscle shortening (contractures) occurs early in the disease. Weakness can spread to chest and pelvic muscles. The disease progresses slowly and causes less severe muscle weakness than some other forms of muscular dystrophy.

For more information on muscular dystrophy or how you can get involved please visit the MDA website at www.MDA.org

God bless everyone and until next time...
-Amy