What causes Werdnig-Hoffmann disease?

What causes Werdnig-Hoffmann disease?

Werdnig-Hoffmann disease is caused by partial or complete loss of SMN gene. Electromyography (EMG) testing can be helpful in identifying myopathic potentials, but due to the widespread availability of genetic testing, it is no longer used in the diagnosis of this condition.

What are the symptoms of SMA1?

Symptoms. Infants with spinal muscular atrophy 1 (SMA1) experience severe weakness before 6 months of age. Muscle weakness, lack of motor development and poor muscle tone ( hypotonia ) are the major features of SMA1. Infants with the poorest outlook have problems with breathing and feeding (sucking and/or swallowing).

How long does a child with SMA live?

Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.

When can SMA be diagnosed?

Type I begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. This is the most severe form of SMA. Type II begins to affect children between 7 and 18 months old.

How do people get Pompe?

Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease.

What does the SMN1 gene do?

The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord.

How is spinal atrophy treated?

There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications. The U.S. Food and Drug Administration has approved the drug nusinersen (Spinraza ™) to treat children and adults with spinal muscular atrophy.

How is SMA diagnosed?

How is SMA diagnosed? A blood test is available to look for deletions or mutations of the SMN1 gene. This test identifies at least 95 percent of SMA Types I, II, and III and may also reveal if a person is a carrier of a defective gene that could be passed on to children.

Is SMA always fatal?

Prognosis varies depending on the type of SMA. Some forms of SMA are fatal without treatment. People with SMA may appear to be stable for long periods, but improvement should not be expected without treatment.

Is Spinraza a cure?

Classified as a rare disease, spinal muscular atrophy (SMA) is a genetic condition that chiefly affects motor neurons and is the leading genetic cause of death in infants worldwide. The disease is chronic, severe and currently has no cure.

What is the life expectancy of someone with Pompe disease?

They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).

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