FAQ • Spinal Muscular Atrophies Of Childhood

FAQ - Spinal Muscular Atrophies Of Childhood
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does anyone know any intresting facts about spinal muscular atrophy?

how can i get rid of lower backpain not spinal but muscular?

im 15 years old and i excercised a lot a long time ago and i must of put to muc pressure in to my excersive and now i have muscular pain

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Or you could try stretching the muscles that are affected when you work out, try hamstrings which are usually related to lower back and start stretching more before and after you exercise! (+ info)

A friend's child has been diagnosed with SMA (spinal muscular atrophy). Is this a mitochondrial disease?

Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. (+ info)

do people with spinal muscular atrophy live as long as someone without?

or do they tend to die at a younger age?

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I think that there are some different types of SMA -- like type I, II, III. . .

For sure, folks with type I and usually type II, I think, will experience respiratory weakness fairly early in life.

www.oursmaangels.com says that SMA is the #1 genetic killer of children under 2.

So I guess the answer is no, the vast majority of people with SMA don't have a typical life expectancy. (+ info)

spinal muscular atrophy?

I am definitely not asking for medical advice just some naturally suggestion. Do anyone know of any natural food or vitamins that you can take to help redevelop your muscle if you have spinal muscular atrophy and it is not the same as taking proteins because although it is call spinal muscular atrophy it is the wasting of the nerve of the muscle and if anyone out there know of any type of natural remedy I sure would really appreciate your help. They keep saying they are looking for a cure but it is taking they a little too long. Please Help

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Has any one tried alternative treatment methods for spinal muscular atrophy?

spinal muscular atrophy is a lethal children's disease

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I believe that is much too risky to attempt untried manipulations on. (+ info)

Spinal Muscular Atrophy support groups?

I lost my little girl May 4th to SMA and I am looking for some kind of support groups where I can talk to other parents who have been through this or are currently going through this. Does anyone know where I can find one?

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Spinal Muscular Atrophy Type 1?

Can someone give me any information on this? What causes it, treatments, (is it always fatal?) really just anything you know?

A (ex) friend from high school's daughter just died from it, and I've never heard of it.
She was only about 6 months old.

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I've found this for you on wikipedia http://en.wikipedia.org/wiki/Spinal_muscular_atrophy

It would seem that it's always fatal, and the sooner the symptoms show up, the earlier the patient will die. It is genetic, and has to do with chromosone 5, which contains the survival neutron gene. There's a whole explanation for it on wikepedia.

SMA type I (what your friend's baby had), also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life. This type generally onsets quickly and unexpectedly after birth; babies diagnosed with Type I SMA do not generally live past one year of age. Pneumonia is considered the ultimate cause of death due to deterioration of survival motor neurons; motor neuron death causes insufficient functioning of the major bodily organ systems, particularly respiratory (e.g. breathing, ridding of pooled secretions inside lungs).

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I'm sorry for your friend's loss. (+ info)

anyone know anything about spinal muscular atrophy?

Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.

Infantile SMA is the most severe form. Some of the symptoms include:

muscle weakness
poor muscle tone
weak cry
limpness or a tendency to flop
difficulty sucking or swallowing
accumulation of secretions in the lungs or throat
the legs tend to be weaker than the arms
feeding difficulties
increased susceptibility to respiratory tract infections
developmental milestones, such as lifting the head or sitting up, can't be reached.
In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.

[edit] Diagnosis
In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. In most cases a diagnosis can be made by the SMN gene test, which determines whether there is at least one copy of the SMN1 gene by looking for its unique sequences (that distinguish it from the almost identical SMN2) in exons 7 and 8. In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated.

[edit] Cause
The region of chromosome 5 that contains the SMN (survival motor neuron) gene has a large duplication. A large sequence that contains several genes occurs twice in adjacent segments. There are thus two copies of the gene, SMN1 and SMN2. The SMN2 gene has an additional mutation that makes it less efficient at making protein, though it does so in a low level. SMA is caused by loss of the SMN1 gene from both chromosomes. The severity of SMA, ranging from SMA 1 to SMA 3, is partly related to how well the remaining SMN 2 genes can make up for the loss of SMN 1. Often there are additional copies of SMN2, and an increasing number of SMN2 copies causes less severe disease.

All forms of SMN-associated SMA have a combined incidence of about 1 in 6,000. SMA is the most common cause of genetically determined neonatal death. The gene frequency is thus around 1:80, and approximately one in 40 persons are carriers. There are no known health consequences of being a carrier, and the only way one might know to consider the possibility is if a relative is affected.

[edit] Types

[edit] Caused by mutation of the SMN gene
The most common form of SMA is caused by mutation of the SMN gene, and manifests over a wide range of severity affecting infants through adults. This spectrum has been divided arbitrarily into four groups by the level of weakness.

Infantile SMA - Type 1 or Werdnig-Hoffmann disease (generally 0-6 months). SMA type 1, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life with the inability to ever maintain an independent sitting position.
Intermediate SMA - Type 2 (generally 7-18 months). Type 2 SMA, or intermediate SMA, describes those children who are never able to stand and walk, but who are able to maintain a sitting position at least some time in their life. The onset of weakness is usually recognized some time between 6 and 18 months.
Juvenile SMA - Type 3 or Kugelberg-Welander disease (generally >18 months). SMA type 3 describes those who are able to walk at some time.
Adult SMA - Type 4. Weakness usually begins in late adolesceence in tongue, hands, or feet then progresses to other areas of the body. Course of disease is much slower and has little or no impact on life expectancy.

Other forms of SMA
Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined. All forms of SMA have in common weakness caused by denervation, that is, the muscle atrophies because it has lost the signal to contract due to loss of the innervating nerve. Spinal muscular atrophy only affects motor nerves. Heritable disorders that cause both weakness due to motor denervation along with sensory impairment due to sensory denervation are known by the inclusive label Charcot-Marie-Tooth or Hereditary Motor Sensory Neuropathy. The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord.

Treatment
The course of SMA is directly related to the severity of weakness. Infants with the severe form of SMA frequently succumb to respiratory disease due to weakness of the muscles that support breathing. Children with milder forms of SMA naturally live much longer although they may need extensive medical support, especially those at the more severe end of the spectrum.

Although gene replacement strategies are being tested in animals, current treatment for SMA consists of prevention and management of the secondary effect of chronic motor unit loss. It is likely that gene replacement for SMA will require many more years of investigation before it can be applied to humans. Due to molecular biology, there is a better understanding of SMA. The disease is caused by deficiency of SMN (survival motor neuron) protein, and therefore approaches to developing treatment include searching for drugs that increase SMN levels, enhance residual SMN function, or compensate for its loss.

Much can be done for SMA patients in terms of medical and in particular respiratory, nutritional and rehabilitation care. However, there is currently no drug known to alter the course of SMA. Significant progress has been made in preclincial research towards an effective treatment. Several drugs have been identified in laboratory experiments that hold promise for patients. To evaluate if these drugs benefit SMA patients, clinical trials are needed. In a clinical trial a new medication is tested while the patients are carefully monitored for their safety and for any possible drug effects, positive or negative.

Some drugs under clinical investigation for the treatment of SMA:

Butyrates
Valproic acid
Hydroxyurea
Riluzole (+ info)

Spinal Bulbar Muscular Atrophy?

what is it? what is its cause? whats the disease process and what does it do to cause a problem? what do they do to diagnose it? support group information?.....please help

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Spinal Bulbar Muscular Atrophy, or Kennedy's disease for short, is a genetic defect that causes muscle cramps and progressive weakness due to degeneration of nerves in your brain spinal cord. Symptoms usually begin appearing between the ages of 30 and 50

Only men are affected by it, with Kennedy's disease in women extremely rare. They test your DNA in order to find the genetic defect that causes it.

A good online support group can be found at
http://www.kennedysdisease.org/index.html (+ info)

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