FAQ - muscular atrophy
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what is sma(spinal muscular atrophy)?


What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. Weakness is often more severe in the legs than in the arms.

The childhood SMAs are all autosomal recessive diseases. This means that they run in families and more than one case is likely to occur in siblings or cousins of the same generation. Parents usually have no symptoms, but still carry the gene. The gene for SMA has been identified and accurate diagnostic tests exist. There are many types of SMA; some of the more common types are described below.

SMA type I, also called Werdnig-Hoffmann disease, is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before the age of 2.

Symptoms of SMA type II usually begin between 3 and 15 months of age. Children may have respiratory problems, floppy limbs, decreased or absent deep tendon reflexes, and twitching of arm, leg, or tongue muscles. These children may learn to sit but will never be able to stand or walk. Life expectancy varies.

Symptoms of SMA type III (Kugelberg-Welander disease) appear between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps, or rising from a chair; and slight tremor of the fingers.

Kennedy syndrome or progressive spinobulbar muscular atrophy may occur between 15 and 60 years of age. Features of this type may include weakness of muscles in the tongue and face, difficulty swallowing, speech impairment, and excessive development of the mammary glands in males. The course of the disorder is usually slowly progressive. Kennedy syndrome is an X-linked recessive disorder, which means that women carry the gene, but the disorder only occurs in men.

Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder. Manifestations include severe contractures, curvature of the spine, chest deformity, respiratory problems, an unusually small jaw, and drooping upper eyelids.


Is there any treatment?


Treatment of all forms of SMA is symptomatic and supportive and includes treating pneumonia, curvature of the spine, and respiratory infections, if present. In addition, physical therapy, orthotic supports, and rehabilitation are useful. Genetic counseling is imperative.

What is the prognosis?


The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms.

What research is being done?


The NINDS supports research to study gene function in SMA. Researchers have found the specific gene that, when mutated, causes SMA. Several animal models of the disease have been developed as well as tests that can determine SMA gene function. This allows scientists to screen drugs that may be useful in treating SMA.
The NINDS has established a model translational research program to accelerate the process of developing a safe and effective treatment for SMA. More information about this program is available at http://www.smaproject.org/.


Select this link to view a list of studies currently seeking patients.

Organizations

FightSMA/Andrew's Buddies
1807 Libbie Avenue
Suite 104
Richmond, VA 23226
[email protected]
http://www.fightsma.org
Tel: 804-515-0080
Fax: 804-515-0081

Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville, IL 60048-0196
[email protected]
http://www.curesma.org
Tel: 847-367-7620 800-886-1762
Fax: 847-367-7623


Spinal Muscular Atrophy Foundation
119 West 72nd Street
Suite 187
New York, NY 10023
[email protected]
http://www.smafoundation.org
Tel: 877-FUND-SMA (877-386-3762) 646-253-7101
Fax: 212-247-3079

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
[email protected]
http://www.marchofdimes.com
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203


Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
[email protected]
http://www.mda.org
Tel: 520-529-2000 800-344-4863
Fax: 520-529-5300

Kennedy's Disease Association
P.O. Box 1105
Coarsegold, CA 93614-1105
[email protected]
http://www.kennedysdisease.org
Tel: 559-658-5950  (+ info)

I'm trying to find the name of a specific muscular atrophy/dystrophy disease...?


The doctor called and said it was
"Yurik Bedlam" Disease,
but I don't know how to spell it, and so haven't been able to properly research it. Yurik Bedlam is just how I say it phoenetically. There's a chance my mother-in-law misheard it on the telephone and it's some variation of that.

Please help me out, I'd love to learn more about this disease, but I can't really get started when I don't know exactly what it is or how to spell it.

thanks.
More spelling guess and test on google found me the answer, I was hoping someone who knew more about forms of muscular dystrophy would recognize it and help me out.

It was actually 2 seperate diseases, Ullrich Congenital Muscular Dystrophy and Bethlem Disease
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Try these websites for medical information.
You failed to say what the symptoms are. Use the symptom checker in the first two, to find the name, then get the best full medical knowledge from the third.

http://www.revolutionhealth.com/symptom-checker/?s_kwcid=symptoms|855616194 . Mayo symptom checker

http://www.webmd.com has symptom checker

http://www.merck.com/mmhe/index.html

My best,
Hope  (+ info)

How long does it take for leg muscles to atrophy?


I used to bike as fast as I possibly could on the highest gear of my racing bike, and now i have huge thigh muscles I want to get rid of. If I stop biking so furiously and continue running, will the muscles still atrophy?

Also, does the position of the bike side have anything to do with how the leg muscles develop?
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legs atrophy rather slow-arms really fast.just sit on your ass for a month and it will help  (+ info)

How long will it take forearm muscles to atrophy from a cast?


I am going to need a long term cast on my forearm due to muscle tearing and a broken bone and I am curious as to how long it will take the muscles to atrophy.
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I don't know it may be a few weeks, 3 or 4 weeks I think.
google it  (+ info)

What is the difference between muscular strength and muscular endurance?


We were in gym and the gym teacher told us to lift a lot of weight and a few reps to build muscular strength. Then another day he told us to lift a little weight and a lot of reps to build muscular endurance. What is the difference between the two? What does each help with?
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Endurance is the ability to contract over a longer time. Strength is the ability to contract with more force. Actually there are a number of different kinds of muscle fibers. The strength part applies somewhat to all of them but particularly to the "white fiber" which mainly functions in strength. Endurance is important is building the blood supply that all muscles need and providing exercise for your heart and lungs as well.  (+ info)

How do you improve muscular strength and endurance?


What are some exercices that help improve your muscular strength and endurance besides push ups and sit ups. Please list 3 for muscular endurance and 3 for muscular strength. Also if you can, please list the amount of time you should do it for from the first week, to around the fifth week, and finally the 9th week. I know that weight lifting helps improve muscular strength, but what else are there that helps? Thanks for answering and 10 points to the best answer.
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if u wanna lose weight and burn fat go running or cycling but if you want to build muscles take muscle workouts regulary, like jacknifes and tricep extensions  (+ info)

What are some ways you can cure bone atrophy? As in surgical procedures?


I need help with this; in a story i am writing someone has bone atrophy and i have no clue where to find information on a cure or surgical procedure.

Please describe it and then put a link below it for where you got your information! THanks a ton!
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There is no specific surgical procedure for bone atrophy (more or less the same thing as osteoporosis). Loss of bone density is managed by altering mineral balance in blood, which is affected by things such as kidney function, hormone levels, diet, exercise, and absorption characteristics of the intestines. Specific problems caused by osteoporosis can be fixed by surgery - spinal surgeries and hip replacements are two examples.  (+ info)

What are some of the best exercises to have tight muscular butt?


I work out alot yet I feel I might not be lifting enough weight to have the muscular lower body as I wish. Can you share some exercises that will give me muscular thighs and butt?! I dont care about being lean, I'd rather be a bit thick and muscular. Thanks!
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Eat a lot of proteins and go on a 45-minute walk everyday. Also, if you can, please visit my question: http://answers.yahoo.com/question/index;_ylt=AsgMe1QvOmx16YLv05fHplbty6IX;_ylv=3?qid=20090925131046AAA34Vc  (+ info)

What is the prognosis for Cerebral Atrophy found in my 68y/o husband, from Malnutrition?


He has developed the Malnutrition after being treated by drug therapy for long standing Depression. The Cerebral Atrophy was found in a CT Scan at the same time Bladder Cancer was found. The Bladder Cancer was successfully treated, but we were not informed of the Cerebral Atrophy untill he went to the Emergency Room in respiratory distress. Everything else checked out as normal. He is a recovering alcoholic, has been clean for 20 years, but has abused pain medication and tranquilizers since.
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Only his doctors would be able to answer that question accurately.  (+ info)

What other systems work with the muscular system to keep the body working?


I have a HUGE project in science where we have to study the skeletal, muscular, respiratory, digestive, urinary, blood, circulatory, endocrine, immune, and nervous systems! I need answers ASAP!
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The muscle make the bones move. The nerves make the impulses so the muscle contracts. The circulatory brings the blood suply to bring the oxygen to make the cells work. The endocirne cells secreate the hormones that make the cell work. The Lympth takes the waste productes away.  (+ info)

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