Werdnig-Hoffman disease
From Wikipedia, the free encyclopedia
| ICD-10 | G12.0 |
|---|---|
| ICD-9 | 335.0 |
| OMIM | 253300 |
| MedlinePlus | 000996 |
| eMedicine | orthoped/304 |
Werdnig-Hoffman disease (also known as "Infantile spinal muscular atrophy", "spinal muscular atrophy type 1", or "spinal muscular atrophy type I") is an autosomal recessive muscular disease. It is the most severe form of spinal muscular atrophy.
Contents |
[edit] 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. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before the age of 2. Other symptoms include:
- Fasciculations of the tongue
- Marked Hypotonia
- Difficulty breathing
- Poor feeding
- Weak cry
- Areflexive extremities
[edit] 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.
[edit] Prognosis
The patient's condition tends to deteriorate over time, depending on the severity of the symptoms. Children with Werdnig-Hoffman disease / SMA Type 1 face a difficult battle. They are constantly at risk of respiratory infection and pneumonia. Feeding difficulties make it a real challenge for parents to give their children adequate nutrition and supplemental feedings may be required. Tubes placed through the nose or directly onto the stomach may be necessary. Recurrent respiratory problems usually result in death before two years of age. Affected children never sit or stand and usually die before the age of 2 due to respitory problems. However, some individuals have survived to become adults, in which case sexual function is unimpaired.
[edit] See also
[edit] External links
- Fight SMA / Andrew's Buddies
- NINDS sma
- {{SMA Support))[1]
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
