Werdnig-Hoffman disease

Werdnig-Hoffman disease

Werdnig-Hoffman disease (also known as "Severe infantile spinal muscular atrophy", or "spinal muscular atrophy type I") is an autosomal recessive neuromuscular disease. It is the most severe form of spinal muscular atrophy, which is one of a number of neuromuscular diseases classified as a type of muscular dystrophy.

Werdnig-Hoffman affects the lower motor neurons only.

Causes

It has been linked to an abnormal survival motor neuron (SMN) gene.

Eponym

It is named for Johann Hoffmann and Guido Werdnig.

Symptoms

It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Affected children never sit or stand unassisted and will require respiratory support to survive before the age of 2. Other symptoms include:

Diagnosis

Genetics

Werdnig-Hoffman disease is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but do not have the disorder.

Treatment

Treatment is symptomatic and supportive and includes treating pneumonia, curvature of the spine and respiratory infections, if present. Also, physical therapy, orthotic supports, and rehabilitation are useful. For individuals who survive early childhood, assistive technology can be vital to providing access to work and entertainment. Genetic counseling is imperative.

Tracheostomy is often (but not always) a part of the treatment plan.

Prognosis

Children with Werdnig-Hoffmann disease / SMA Type 1 face a difficult battle. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms.

The child is constantly at risk of respiratory infection and pneumonia.

Poor chewing and swallowing may lead to malnutrition; supplemental tube feedings may be required through the nose or directly into the stomach.

Recurrent respiratory problems (the primary cause of morbidity in this condition) mean that mechanical support for breathing—usually initially in the form of BiPAP and later often tracheostomy and ventilation—are necessary for the baby to have any chance of long-term survival.

Affected children never sit or stand and usually die before the age of 2 without breathing support.

However, some individuals have survived to become adults, in which case sexual function is unimpaired.

See also

References

External links

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