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Werdnig-Hoffman Disease
Monday, 02 February 2004
Thursday, 25 March 2004
Spinal Muscular Atrophy

What

Werdnig-Hoffman Disease is a rare syndrome of young infants, marked by weakness and severe muscular problems. There are three types of spinal muscular atrophies, and Werdnig Hoffman Disease refers to Type I, the disorder that affects younger children.

Who

Werdnig-Hoffman Disease is passed to children from their parents in what is called an autosomal recessive pattern of inheritance. This means that each parent carries a gene for the disorder without knowing it; if one of their children inherits both of these genes, that child will develop the disorder.

Signs and Symptoms

: Children with Werdnig-Hoffman Disease are usually diagnosed before they turn 6 months old. They may do well for several months, but then they usually begin to have problems feeding or moving. They will no longer be able to hold their heads up, or they may no longer be able to turn their heads. The following symptoms are also likely to be present: 1. Weak muscles 2. Decreased muscle tone (hypotonia) 3. Decreased muscle size (atrophy) 4. Decreased reflexes 5. Decreased joint movements (contractures) 6. Irregular breathing patterns that show the chest collapsing when an infant breathes in 7. Bell-shaped chest 8. Decreased movement of fingers and toes 9. Back and forth movements of the tongue (fasciculations)

Possible Causes

The cause of Werdnig-Hoffman Disease is thought to be a defective gene. Everybody is born with too many nerve cells; the extra, unnecessary cells are programmed by the body to die off. Healthy children have a gene that is able to tell the body when enough nerve cells have died. Children born with Werdnig-Hoffman Disease, however, don’t have this gene; nerve cells keep dying and soon the body and its muscles are affected.

Diagnosis

Diagnosis of Werdnig-Hoffman Disease can be made with three tests. The first is called electromyography (EMG), in which a small needle is used to stimulate a muscle and watch its electrical activity. The second test involves removing a small piece of muscle to examine under a microscope; this is called a biopsy. The third is a blood test that looks for the gene responsible for the disorder.

Treatment

Treatment for Werdnig-Hoffman Disease focuses on both symptomatic relief and supportive care. Children may benefit from physical therapy and mechanical devices that help them eat. Children whose muscles are too weak to allow them to breathe will require help from a ventilator machine.

Prognosis

At this time, there is no cure for Werdnig-Hoffman Disease, although researchers remain hopeful. Children with Werdnig-Hoffman Disease have normal intelligence. The greatest risk of death occurs when they catch a cold or a virus, worsening their already weak breathing muscles

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Families of Spinal Muscular Atrophies
This website is a non-profit organization that provides information about Werdnig Hoffman Disease. They also fund research and provide links to local support groups.

Muscular Dystrophy Association
This website is a partnership between concerned citizens and scientists. This site provides brief disease descriptions, information in Spanish, articles for parents, chat rooms and a special “ask the experts” feature.

Google Search for Werdnig-Hoffman Disease

References and Sources

1. Sarnat HB (2000) Disorders of neuromuscular transmission and of motor neurons. In: Behrman RE, Kliegman RM & Jenson HB (eds) Nelson Textbook of Pediatrics 16th ed. WB Saunders, p 1887 2. Ouvrier R, & Rapin I (1996) Childhood neuropathies. In: Rudolph AM. Hoffman JIE, Rudolph CD (eds) Rudolph’s Pediatrics, 20th ed. Appleton & Lange, p 1969- 70.