Charcot-Marie-Tooth Disease: Genetic Diseases

Charcot-Marie-Tooth disease (CMT) is also known as hereditary motor and sensory neuropathies which affect mostly to the people of United States.

It is a common hereditary disease and comprising of a group of disorders that affects the peripheral nervous system. It is defined by progressive loss of muscle tissue and touch sensation across various part of the body. The disorders that affect the peripheral nerves are called Peripheral Neuropathies.

The peripheral nerves lie outside the brain and spinal cord and supply the supply the muscles and sensory organs in the limbs.

What are the symptoms of the Charcot-Marie-Tooth disease?

The neuropathy of CMT usually begins in childhood and affects motor and sensory nerves (the motor nerves are involved to contract muscles and control all the voluntary muscle activities).  The severity of this diseases varies from person to person. This disease causes weakness in the foot and lower leg muscles which result in foot drop and a high-stepped gait with frequent tripping. In some cases, lower leg may take on the appearance of an ‘inverted champagne bottle’ due to the loss of the bulk of muscle. Later the weakness and muscle atrophy may occur in the hands which ultimately leads to the difficulty in carrying out fine motor skills (affects the coordination of movements of fingers, hand, wrist, feet, and tongue). It is not considered a fatal disease and people with most forms of CMT have a normal life expectancy. Overuse of the affected part can activate symptoms like numbness, spasm, and painful cramping.

Some people do not experience the symptoms until their early 30s and 40s.

Symptoms and progressions vary from person to person including involuntary grinding of teeth, breathing, hearing, vision, neck, shoulder muscles, loss of heights, malfunction of hip sockets, gastrointestinal problems etc.

Causes

It is caused by the mutations which lead to the defects in the proteins, involved in structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different types of CMT, and slowly degenerates the nerves and lose the ability of the nerves to communicate with their distant targets. Nerve signals are conducted by the axon with a myelin sheath and this CMT mostly affect the myelin sheath as compared to the

axon.

Genetic Diseases: Cystic hygroma

Introduction

A Cystic hygroma is a fluid-filled sacs which occurs due to blockage in the Lymphatic system. It mostly occurs in the neck and head area, but it can be found anywhere in the body. It may be found in a baby during a pregnancy ultrasound, or it may be clear at birth as a delicate bulge beneath the skin. Cystic hygromas influence 1 in 800 pregnancies and 1 in 8,000 live births. In 80% of cases, cystic hygromas show up on the face, counting the head, neck, mouth, cheek, or tongue. The growths may also occur in other parts of the body; i.e. armpits, chest, legs, chest, buttocks, and groin.

When it is distinguished on pregnancy ultrasound, there's an increased chance for miscarriage. In some cases, it isn't found until a person is older. Indications can change depending on its size and the particular area, and it can possibly cause issues with adjacent structures or organs.

Cystic hygromas usually influence children, but there have been uncommon cases of them showing up in adulthood.

Causes

The Cystic hygromas are caused due to environmental and genetic factors both. The exact cause of cystic hygromas isn't known but hereditary anomalies are present in around 25% to 75% of influenced children. The disease is more common in people with Turner syndrome, Down syndrome, or Klinefelter syndrome.

Symptoms

Symptoms may vary depending on the area of the cysts. A few children may not encounter any indications other than the growth.

If a child has symptoms, they may include:

·         fluid-filled sacs on the tongue

·         large cysts that appear blue

·         obstructive sleep apnea, a sleep disorder that causes breathing to stop and start

·         breathing and feeding difficulties

·         failure to thrive

·         bone and teeth abnormalities

In rare cases, the hygromas may bleed or become infected.