 Spinal
Muscular Atrophy
What is Spinal Muscular
Atrophy?
Spinal muscular atrophy (SMA) is a disorder that causes weakness and wasting
of muscles. The condition may be acquired or hereditary. The hereditary
SMA syndromes are genetic diseases that cause motor neurons in the spinal
cord to degenerate and die, causing the muscle weakness. There are several
types of hereditary spinal muscular atrophy, based on the severity of
the disease and when the disease developed. The most severe type (Werdnig-Hoffman
disease ) presents in infancy; these infants cannot walk and many die
of respiratory failure before their second birthday. Kugelberg-Welander
disease presents after the age of two and has a variable course. Rarely,
hereditary SMA begins in adulthood. Motor neuron involvement in amyotrophic
lateral sclerosis may be limited to the spinal cord, and this pattern
is also sometimes referred to as spinal muscular atrophy but is not hereditary
(see amyotrophic lateral sclerosis).
Who Gets Spinal Muscular Atrophy?
Hereditary spinal muscular atrophy is a genetic disorder. The disorder
is recessive, meaning a child has to inherit the gene from both parents
to be affected. Most patients are affected in childhood, although some
forms can affect people much later in life.
How is Spinal Muscular Atrophy Diagnosed?
After taking the patient's history and performing a physical examination,
a physician may perform a blood test to see if the patient has the genetic
flaw causing spinal muscular atrophy. The physician may also perform an
EMG.
How is Spinal Muscular Atrophy Treated?
There is no definitive treatment for hereditary SMA, Physical and occupational
therapy are often useful in helping patients cope with the effects of
the disease and relieve complications.
To Find a Specialist
To find a physician board-certified to conduct needle EMGs and nerve conduction
studies click here: www.abemexam.org
For More Information
National Institutes of Neurological Disorders and Stroke: www.ninds.nih.gov
Spinal Muscular Atrophy Foundation: www.smafoundation.org
Muscular Dystrophy Association: www.mdausa.org
Muscular Dystrophy Association of Australia: www.mda.org.au
Families of Spinal Muscular Atrophy: www.fsma.org
Andrew's Buddies: www.fightsma.org
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