Werdnig-Hoffmann Disease (Educating ourself)

Here is a very dear case of this sweet little child who has a severe genetic disorder. He has had to overcome more in his 1st year of life than many of us will ever experience in our lifetime, although you would never know due to his infectious smile and big brown eyes! We hope he is pain free and continues to bring joy to his strong parents and all those around him! Cheers to you little man! 🙏👶

Werdnig-Hoffmann Disease, also known as spinal muscular atrophies (SMAs), is characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal and extremity muscles initially, followed by chewing, swallowing and breathing difficulties.

The symptoms and progression of SMA1 or Werdnig-Hoffmann disease type 1 varies among affected individuals. Infants with SMA1, like the cutie above, experience severe weakness before 6 months of age, and the patient never achieves the ability to sit independently when placed. Although mental development is normal, early signs include a generalized muscle weakness, diminished muscle tone (hypotonia) resulting in “floppiness,” abnormally increased flexibility of the joints, absent tendon reflexes, twitching of the tongue, a frog-like position with the hips moved apart and knees bent or flexed, and an alert appearance.

A diagnosis of SMA is usually confirmed through molecular genetic testing, which can determine whether a mutation is present in the SMN gene. Unfortunately, the prognosis of this condition is pretty severe. Most affected children don't live past 2 years of age but survival may be dependent on the degree of respiratory function and respiratory support.

As always, stay young at heart and stay smiling everyone! 🤓