SPINAL MUSCULAR ATROPHY AWARENESS

CLINICAL TRIALS.GOV

CLINICAL TRIALS.GOV

THIS SITE CONTAINS STUDIES FOR SMA PATIENTS

FAMILIES OF SPINAL MUSCULAR ATROPHY

FAMILIES OF SPINAL MUSCULAR ATROPHY

Mission statement: Families of Spinal Muscular Atrophy is the largest international organization dedicated solely to:

Eradicating spinal muscular atrophy (SMA) by promoting and supporting research.

Helping families cope with SMA through informational programs and support.

Educating the public and professional community about SMA.

We are a non-profit, 501(c)3 tax exempt organization. Funds will be specifically directed to scientific, educational or literary purposes in keeping with a charitable organization. The organization is proud to provide funding to Families of S.M.A. DIRECTION and to this web site which provide information and networking opportunities to its members. We are a volunteer-driven organization.

QUICK FACTS ABOUT SMA

THE DISEASE:
Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is a group of inherited and often fatal diseases that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.

WHO IS AFFECTED?
-SMA is one of the most prevalent genetic disorders.

-One in every 6,000 babies is born with SMA. Of children diagnosed before age two, 50 percent will die before their second birthday.

-SMA can strike anyone of any age, race or gender.

-One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.

THE TYPES OF SMA:
SMA Patients are classified into four types based on milestones achieved at onset of SMA. Type I and II are most prevalent.

-Type 1, or Werdnig-Hoffmann Disease, is the most severe form of SMA. Type I SMA strikes infants between birth and six months old. Children affected with Type I cannot sit without support. Fifty percent of Type I babies will die before their 2nd birthday.

-Type II affects infants between seven and 18 months old. Type II patients may be able to sit unaided or even stand with support. They are at increased risk for complications from respiratory infections.

-Type III, also known as Kugelberg-Welander Disease, is the least deadly form of childhood-onset SMA. It strikes children as early as the age of 18 months, but can surface as late as adolescence. Type III patients are able to walk, but weakness is prevalent. Most patients eventually need to use a wheelchair.

-Type IV is the adult form of the disease. Symptoms tend to begin after age 35.

SMA does not affect sensation and intellectual activity in patients. It commonly is observed that patients with SMA are unusually bright and sociable.

RESEARCH:
In 1999, investigators at The Ohio State University replicated SMA in a mouse model. The researchers have demonstrated that when the mice have high amounts of the SMN2 gene, which is present in all human SMA patients, the SMA phenotype is corrected and they develop normally. These findings support the conclusion that large amounts of the protein could act to prevent the damage caused by SMA or even reverse the impact of the disease.

Since then, many more important research steps have been made. For details, please see SMA Research. The current focus of research is on finding an effective treatment for SMA.

This research was funded in large part by the volunteer driven, not-for-profit organization Families of SMA - http://www.fsma.org

TESTING:
Prenatal counseling is available to couples who are carriers of SMA or who have lost a child to SMA. For details, please see SMA Genetics.

FIGHTSMA

FIGHT SMA WEBSITE

LINK TO THEIR WEBSITE

ABOUT FIGHT SMA

The Mission of FightSMA:
Andrew's Buddies Corporation (also known as "FightSMA") was created to accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), the number-one inherited cause of infant death. The organization pursues this objective by raising awareness and funding for SMA research.

The Story of FightSMA:
Since its creation in 1991, Andrew's Buddies, which is also known as "FightSMA", has worked to bring higher levels of awareness and understanding to spinal muscular atrophy (SMA). It began its crusade with a successful 30-day campaign to raise $100,000 to supply researchers with vital gene-search equipment.

In the years since, FightSMA has funded SMA researchers at numerous academic institutions and biotech corporations in the United States, the United Kingdom, France, Italy, and Canada. The group has been involved since the initial (and successful) search for the gene that causes SMA to the more recent efforts to identify compounds which can compensate for the faulty gene and, ultimately, provide treatment for the disease.

FightSMA has brought attention to the disease, winning praise from the White House, Congress, and the National Institutes of Health (NIH). It has generated news coverage through such media as the NBC Today Show, the Associated Press, USAToday, CNN's Wolf Blitzer Reports, and Parents Magazine. Its programs have won numerous awards from various community and professional organizations, including the YWCA and the Public Relations Society of America.

FightSMA works with other SMA groups to encourage increased federal funding for SMA research as a founding member of the SMA Coalition. That effort has been supported by the work of the former National Honorary Chairman of FightSMA, NFL legend, Howie Long.

Much of the organization's success is due to a strong network of energetic and committed Chapters located across the United States and in Canada. These chapters have organized fundraising events and worked with media to bring attention and support to SMA in numerous communities. In addition to the FightSMA chapters, there are families and supporters in other communities who work in fundraising and awareness-building capacities.

An important part of the FightSMA year is the Annual Conference. This meeting provides an extraordinary opportunity for researchers to collaborate and plan for the future, for SMA families to hear from scientists and clinicians, and for supporters to present their Congressional representatives with information about spinal muscular atrophy.

GENETICS HOME REFERENCE

GENETICS HOME REFERENCE

What is spinal muscular atrophy?:
Spinal muscular atrophy is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and shrinkage (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected.

Spinal muscular atrophy is divided into subtypes based on the severity and age of onset of symptoms. Three types of this disorder affect children before the age of 1 year. Type 0 is a very severe form of spinal muscular atrophy that begins before birth. Usually, the initial sign of type 0 is reduced movement of the fetus that is first noticed between 30 and 36 weeks of gestation. After birth, newborns show little movement and have difficulties swallowing and breathing. Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe form of the disorder that is evident at birth or within the first few months of life. Typically, affected infants have difficulty breathing and swallowing, and they are unable to sit without support. Children with type II spinal muscular atrophy usually develop muscle weakness between ages 6 and 12 months. Children with type II can sit without support, although they cannot stand or walk unaided.

Type III spinal muscular atrophy (also called Kugelberg-Welander disease or juvenile type) is a milder form of the disorder than types 0, I or II. Symptoms appear between early childhood (older than age 1 year) and early adulthood. Individuals with type III spinal muscular atrophy can stand and walk unaided, but usually lose this ability later in life. Two types of spinal muscular atrophy, type IV and Finkel type, occur in adulthood, usually after age 30. Symptoms of adult-onset spinal muscular atrophy are typically mild to moderate and include muscle weakness, tremor, and twitching.

How common is spinal muscular atrophy?:
Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

LINK TO THEIR WEBSITE

SMA FOUNDATION

SMA FOUNDATION.ORG

Mission:
The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.

THE SEAN W. VENEZIA FOUNDATION

SMAFUND.ORG

Spinal Muscular Atrophy, commonly referred to as SMA, is an inherited disease that destroys the spinal cord nerves that control muscle movement, which affects crawling, walking, head and neck control, and even breathing and swallowing.
Although SMA is as common as ALS (Lou Gehrig's Disease), it is not nearly as well-known because many of its victims die so young.

Currently, there is no treatment or cure for SMA. However, its cause is well understood and the "problem" gene has been identified. As a result, a cure could be on the horizon, but money is still needed to fund research and to help families that are currently impacted by this tragic disorder.

UNIVERSITY OF VIRGINIA HEALTH SYSTEM

AWESOME INFORMATION!

UNIVERSITY OF VIRGINIA HEALTH SYSTEM

Spinal Muscular Atrophy:

What is spinal muscular atrophy (SMA)?
Spinal muscular atrophy is a rare degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness.

What causes spinal muscular atrophy?
SMA is an autosomal recessive disease. This means that both males and females are equally affected, and that two copies of the gene, one inherited from each parent, are necessary to have the condition. A gene called survival motor neuron (or SMN) is found to have an abnormal area (either a deletion or extra copy of the gene) in over 95 percent of cases of SMA. Symptomatic individuals of all ages can be tested through DNA studies typically done from a blood sample. When both parents are carriers, there is a one in four, or 25 percent, chance, with each pregnancy, to have a child with SMA. Carrier testing for the general population is technically difficult and usually available only if a previously affected child in the family has been studied.

What are the symptoms of spinal muscular atrophy?
Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Each child may experience symptoms differently. There are four types of spinal muscular atrophy based on symptoms and age of onset. The child may have the following symptoms:

type I (Also called Werdnig-Hoffman.)
This is the most severe type of SMA and may be present at birth. Infants have problems holding their head, sucking, feeding, swallowing, and typically move very little. The muscles of the chest are also affected. The motion of the tongue is described as having "worm-like" movements. Death results usually by the age of two to six years from breathing problems.

type II (intermediate form)
This form of SMA is seen in children from seven months to 18 months of age. They typically have generalized muscle weakness and may require braces, walkers, or a wheelchair for assistance. Life-expectancy may extend to the 20s and 30s.

type III
(Also called Wohlfart-Kugelberg-Welander.)
This form of SMA affects children older than 18 months of age. These children show signs of clumsiness, difficulty walking, mild muscle weakness, and may be developmentally delayed. These children live long into their adult years.

type IV
This form of SMA affects adults in their 30s and 40s, resulting in a walking disability.

The symptoms of spinal muscular atrophy may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.

How is spinal muscular atrophy diagnosed?
The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. During the physical examination, your child's physician will obtain a complete medical history of your child, and he/she may also ask if there is a family history of any medical problems. Diagnostic tests that may be performed to confirm the diagnosis of spinal muscular atrophy include the following:

-blood tests

-muscle biopsy - a small sample of the muscle is removed and examined to determine and confirm a diagnosis or condition.

-genetic tests - diagnostic tests that evaluate for conditions that have a tendency to run in families.

-electromyogram (EMG) - a test that measures the electrical activity of a muscle or a group of muscles. An EMG can detect abnormal electrical muscle activity due to diseases and neuromuscular conditions.

Treatment of spinal muscular atrophy:
Specific treatment for spinal muscular atrophy will be determined by your child's physician based on:

-your child's age, overall health, and medical history

-the extent of the condition

-the type of spinal muscular atrophy

-your child's tolerance for specific medications, procedures, or therapies

-expectations for the course of the condition

-your opinion or preference

There is no cure for spinal muscular atrophy. The key to medically managing spinal muscular atrophy is through early detection.

The goal of treatment is to prevent respiratory problems and provide adequate nutritional care to the child since the swallowing and breathing muscles can be affected by this condition.

The extent of the problem is dependent on the severity of the condition and the presence of other problems that could affect the child. In severe cases, a breathing machine may be required to help the child breathe easier.

The healthcare team educates the family after hospitalization on how to best care for their child at home and outlines specific clinical problems that require immediate medical attention by his/her physician. A child with spinal muscular atrophy requires frequent medical evaluations throughout his/her lifespan.