Feingold syndrome

Feingold syndrome is an autosomal disorder affecting various parts of the body. It has similar clinical manifestations like the Banki syndrome. It predominantly affects the brachial region, digits and toes. One of the predisposing factors for the occurrence of the Feingold syndrome is gastrointestinal atresia at a very young age. The adverse effects of this syndrome are characterized by kidney, liver and cardiac abnormalities. The only form of treatment in case of Feingold syndrome is through surgical intervention.

Bloom's syndrome

Bloom's syndrome is a rare autosomal disorder. It is also known as congenital telangiectatic erythema. It is characterized by intense photosensitive nature leading to the hindrance in the growth and development of the fetus This disorder is triggered as a result of genetic mutation which creates a biochemical malfunction in the body by enhancing the superoxide radical anion production. In most cases, Bloom's disorder occurs among exclusive tribes of Jews. The effects of Bloom's syndrome is predominantly on the reproductive system as it decreases the sperm count and also causes premature delivery and provokes the onset of diabetes. Since Bloom's syndrome is related to photosensitivity, the only known form of treatment is through avoiding exposure high intensity light rays.

Werdnig Hoffmann Disease

Spinal Muscular Atrophy or Werdnig-Hoffmann disease is also called as SMA1 or spinal muscular atrophy 1. This condition is inherited in an autosomal recessive manner. Degeneration of the nerve cells in the lowest region of the brain and degeneration of specific motor neurons (nerve cells that transmit nerve impulses from brain or spinal cord to the muscles) in the spine lead to muscle weakness. Slowly chewing and breathing also become a challenge. The lower limbs are generally weaker when compared to the upper limbs. These motor neurons are associated with activities such as crawling, walking, sitting up and controlling head movement.

As this condition leads to muscle weakness, kids born with this syndrome are unable to sit up without external support. Amongst the different types of spinal muscular atrophy, Werdnig-Hoffmann disease is the most severe. SMA1 is classified into 3 subgroups depending on the clinical signs and the period of onset.

Type I: Severe weakness since birth, head control is never achieved. Such children are mostly unable to support their head or sit unassisted. Choking and gagging occurs while breathing and swallowing.

Type II: Onset of weakness within 2 months from birth, head control is not achieved.

Type III: Onset of weakness after neonatal period however head control is achieved. A few children may be able to sit up with the help of external support.

Type IV: This type of spinal muscular atrophy occurs after the age of 30. There might be muscle weakness and tremors. In most cases, only the proximal muscles or those closest to the center of the body are affected. There might be involuntary muscle contractions, limb cramps and protrusion of abdomen.

There is no cure for Werdnig-Hoffmann disease and it is a fatal type disorder. The management of this condition could include support from speech therapy, occupational therapy, physiotherapy, palliative medical care and respiratory medicine.