CHARCOT-MARIE TOOTH DISEASE

Charcot-Marie Tooth Disease, also known as hereditary motor and sensory neuropathy, is an inherited disease that comes in groups and causes nerve damage mostly found in the arm and legs or the peripheral nerves.

Charcot-Marie Tooth Disease often appears during early adulthood and results in smaller and weaker muscles. When diagnosed with Charcot-Marie Tooth Disease, you may have difficulty walking, and you may feel loss of sensation and muscle contractions. Charcot-Marie Tooth Disease is generally found in the arms and legs but mostly starts in the legs. You may also experience foot deformities like hammertoes and high arches.

 

CAUSES

Charcot-Marie Tooth Disease is typically an inherited condition that occurs when mutations of genes are present. These gene mutations damage the nerves and usually affects the nerves in your feet, hand, arms, and legs. Other gene mutations impair or affect the protective coating surrounding the nerve or also called the myelin sheath. These damages cause weaker travel of information to your extremities and into your brain, which means that some muscles in your feet do not receive the signal from the brain to contract and cause you to trip or fall.

 

RISK FACTORS AND COMPLICATIONS

If anyone in your family has a history of being diagnosed with Charcot-Marie Tooth Disease, you may have been at high risk of developing the disease as it is hereditary. Also, the presence of diabetes in your body can help in the progression of the disease.

Some medications may worsen Charcot-Marie Tooth Disease like chemotherapy drugs such as paclitaxel, and other drugs. That’s why you need to inform your doctor about the medications you are currently taking if you have Charcot-Marie tooth disease.

Complications may vary depending on how severe it is to a person diagnosed with Charcot-Marie Tooth Disease such as foot abnormalities that may cause weaker muscles and injured areas that experience the least sensation. If muscles that control nerve function are affected with Charcot-Marie Tooth Disease, you may experience difficulty in breathing and speaking or even swallowing.

SYMPTOMS

When Charcot-Marie Tooth Disease worsens, signs and symptoms may spread to the hands. The severity of these symptoms vary from person to person or even to family members.

These signs and symptoms include:

  • Weakness in legs down to the ankles and feet
  • Bulkiness in legs and arms are decreased
  • High foot arches
  • Hammertoes or curled toes
  • Ability to run is decreased
  • Awkward gait
  • Frequent tripping and falling
  • Loss of sensation in the legs down to the feet is decreased

DIAGNOSIS

Before diagnosing hematospermia or blood in semen, several tests are performed after a physical examination and a clinical history evaluation. Urinalysis is one of the most commonly performed diagnostic tests in which cultures may be done to identify any sexually transmitted disease or even infections. Also, imaging studies such as MRI or ultrasound are tests to determine whether there is the presence of tumors or other abnormalities that may cause the blood in semen. And in some situations, a semen analysis is done to analyze the semen under a microscope, which is usually recommended.

 

TREATMENT

Treatments for conditions associated with it do not treat blood in semen, but they are treatments used for the underlying condition that has caused it. For example, if you have been diagnosed with blood in semen because of inflammation in the prostate gland, your doctor will prescribe you with an antibiotic. However, the benefit of this treatment has not been settled even though studies show that men who are diagnosed with blood in semen are caused by prostatitis.

In some cases where men are diagnosed with it but did not acquire those abnormalities, there is no treatment given as the condition resolves as time goes by. Although persistent of it that happens for more than a month, further follow up is needed.

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