Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in your spinal cord. These neurons communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As you lose the neurons, your muscles weaken. This can affect walking, crawling, breathing, swallowing and head and neck control.

SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.

There are many types of SMA, and some of them are fatal. Life expectancy depends on the type you have and how it affects your breathing. There is no cure. Medicines and physical therapy help treat symptoms.

National Institute of Neurological Disorders and Stroke

Infantile Spinal Muscular Atrophy on Wikipedia

Introduction

'''Spinal Muscular Atrophies''' (SMA) are inherited disorders. Spinal muscular atrophy, as defined by international criteria, requires the weakness to be symmetrical and greater in the proximal muscles than in the distal ones. It is when nerves fail to function normally and the muscle cells with which they are connected deteriorate. SMA is when muscles weaken and waste away from degeneration of motor neurons. It is a progressive, symmetrical muscle weakness which usually presents itself within the first six months of life. Death usually occurs between six and twenty months, either of respiratory failure or secondary to chest infection. There are different forms according to age of onset.

Forms

The forms include: *Infantile SMA - Type 1 or Werdnig-Hoffman disease (0-6 months) *Intermediate SMA - Type 2 (7-18 months) *Juvenile SMA - Type 3 or Kugelberg-Welander disease (>18 months) *Adult onset SMA - Type 4 *Adult onset X-Linked SMA also known as Kennedy's Syndrome or Bulbo-Spinal Muscular Atrophy.

Symptoms

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. The earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once the symptoms appear the child's cells quickly deteriorate shortly after. The disease is fatal. There is no cure for SMA yet known. The symptoms just get worse. 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 are already in a weakened and vulnerable ... [ Read More ]

External Resources

Irina's Cozy Corner and SMA Page - Personal web page of a Russian woman living with Spinal Muscular Atrophy. Includes information on travel, recipes and psychology. English, Russian and Italian versions.

Melissa's Page on Spinal Muscular Atrophy - Personal web page about Spinal Muscular Atrophy. Describes growing up with the disease and current events in Melissa's life.

FightSMA - Web site promoting public awareness for spinal muscular atrophy.

SMA Angels Support Site - A place for people to find support for Spinal Muscular Atrophy (SMA) / Werdnig-Hoffman.

Families of SMA (Spinal Muscular Atrophy) - International support group and resource center for this disease, includes current research.

Ilsa's SMA Resources - A detailed description, news and links with information about Spinal Muscular Atrophy. A personal story of a baby, Ilsa.

Spinal Muscular Atrophy - This site contains a collection of material pertaining to SMA. I have been searching facts on SMA ever since our son was diagnosed with the disease in 1994.

Tori's Buddies - Canadian Chapter of Andrew's Buddies, fighting Spinal Muscular Atrophy SMA.

Theo's Story with SMA - A personal story of a family with a son Theo, suffering from Spinal Muscular Atrophy. Site also in French.

Families of Spinal Muscular Atrophy Canada - Canadian charity supports research into a cure for SMA.

Related Pages on HealthTales.com:

Spinal and bulbar muscular atrophy
Muscular Dystrophy
Emery-Dreifuss muscular dystrophy
Spinal Diseases
Spinal Stenosis
Muscular dystrophy, Duchenne and Becker types
Spinal Cord Diseases
Spinal Cord Injuries