HomeHealth articleskennedy diseaseHow to Treat Kennedy Disease?

Kennedy Disease - Symptoms, Causes, Diagnosis, and Treatment

Verified dataVerified data
0

4 min read

Share

A genetic motor neuron illness known as Kennedy disease affects men interfering with the brain's ability to send information. Read the article to learn more.

Written by

Dr. Shikha

Medically reviewed by

Dr. Abhishek Juneja

Published At December 14, 2022
Reviewed AtJune 1, 2023

What Is Kennedy's Disease?

Kennedy disease is a neuromuscular condition that slowly worsens and causes the proximal muscles, which are the muscles that are closer to the trunk, and the bulbar muscles, which are the muscles of the face and throat, to atrophy. Adult males are mainly affected by the illness. Tremors, cramping, and twitching of the muscles are some early signs. Progressive muscle loss and weakening follow, and these symptoms might take many different forms. Gynecomastia, testicular atrophy, which is a loss in testicle size or function, and decreased fertility due to modest androgen sensitivity are further symptoms. Kennedy's illness is inherited in an X-linked recessive way and is brought on by a genetic mutation in the androgen receptor (AR) gene.

What Are the Signs and Symptoms Seen in the Disease?

Neurological symptoms start to appear between the ages of 20 and 50 in those affected. These preliminary signs include:

  • Weakness or cramps in the proximal part of the arm and leg muscles.

  • Weakness in the face, mouth, and tongue muscles.

  • Difficulty speaking and swallowing (dysphagia).

  • Twitching or fasciculations.

  • Testicular atrophy.

  • Gynecomastia or enlarged breasts.

  • Numbness.

  • Tremors and trembling in specific postures.

  • Infertility.

The condition impacts lower motor neurons, which control several arms, legs, mouth, and neck muscles. Those who are affected will exhibit twitching, frequently in the tongue or hands, followed by weakness in their muscles and issues with their facial muscles. The neurons that link the spinal cord to the muscles develop defects and die, making it impossible for the muscles to contract. The main cause of muscle weakness, numbness, and inability to handle muscle contraction is the loss of these nerves. A person may have hypertrophic calves, in which the calf muscles enlarge due to muscle spasms if their neuromuscular function is abnormal. One side of the body may occasionally be more affected in people with this condition than the other.

Additionally, the condition affects the nerves that direct the bulbar muscles, which are crucial for speaking, swallowing, and breathing. Infertility, larger breasts, loss of masculinity, and androgen insensitivity can also develop, sometimes starting in youth and lasting throughout adulthood. Patients may struggle with issues including erectile dysfunction and a low sperm count.

What Causes Kennedy's Disease?

A change in the androgen receptor gene is what leads to Kennedy's disease. Cells that comprise the epidermis, skeletal muscle, kidney, prostate gland, and lower motor neurons in the spinal cord and brainstem all have the androgen receptor gene in their cytoplasm. Androgen hormones often bind to the androgen receptor, which sets off a series of events that tell genes to produce more proteins for various cell functions. The mutation of the androgen receptor gene causes Kennedy disease, affecting this function; however, the precise process causing motor neuron damage is still poorly understood.

The androgen hormone binds to the receptor in a healthy individual, and the hormone-receptor complex subsequently translocates into the nucleus, where it signals genes to boost protein synthesis for diverse purposes. Kennedy disease is an X-linked hereditary condition that mostly affects men. Rarely, symptoms in female bearers of the defective gene may appear.

Two X chromosomes, one of which is activated and the other of which is inactivated, are present in healthy females because the androgen receptor has to bind to its ligand, testosterone, to translocate to the nucleus and carry out its duties.

Kennedy's illness often does not exhibit symptoms. Female carriers of Kennedy's illness do not stimulate their mutant androgen receptors because they have low levels of circulating testosterone, which renders the mutant form of the androgen receptor protein harmless. Since males only have a single X chromosome, they are more likely to inherit the X chromosome carrying the Kennedy illness gene. While affected males with X-linked illnesses only convey their normal Y chromosome to their sons, they will always carry the gene to their daughters. As a result, while the sons of an infected male will not get the condition, all of his daughters will be carriers of it. The daughters have a 50 percent chance of becoming carriers, while sons of female carriers have a 50 percent chance of inheriting the illness.

How to Diagnose Kennedy's Disease?

Age of onset refers to the typical age at which a disease first manifests its symptoms. For some diseases, the age of onset might vary, and a doctor may use this information to diagnose them. Some disorders may show symptoms at one particular age or numerous different ages. Other diseases can manifest their symptoms at any point in a person's life.

Due to its rarity, Kennedy's disease is susceptible to misdiagnosis. It is occasionally confused with the more prevalent motor neuron disease, such as amyotrophic lateral sclerosis, a degenerative neurological disorder marked by the degeneration of neurons in the brain and spinal cord. Several tests, including the following, can be used to identify Kennedy's disease:

  • Blood test to look for elevated serum creatine kinase (CPK) levels; Kennedy disease patients typically have higher levels of this specific enzyme circulating in their blood than normal people.

  • Even if a person is asymptomatic or a carrier, genetic tests utilizing blood samples can determine whether the Kennedy disease gene is present. Counseling on possible genetic matters and anomalies.

How to Treat Kennedy’s Disease?

Due to medical science's inability to rebuild muscle neurons, Kennedy's disease has no known cure. One goal of treatment is to lessen some of the symptoms, and that includes:

  • Medicines to lessen tremors and cramping in the muscles.

  • Ample rest and avoid weariness.

  • A nutritious, balanced diet.

  • Mild aerobic activity regularly.

  • Frequent stretching to alleviate pain.

  • Management of muscular cramps.

  • Occupational therapy.

  • Physical therapy.

  • Speech therapy.

What Is the Prognosis of Kennedy’s Disease?

Kennedy's disease advances gradually. Until the disease is advanced, people typically maintain their ability to walk, though some may become wheelchair-bound. Individuals with Kennedy's disease typically live normal lives.

Conclusion:

The neuromuscular system refers to the network of muscles and nerves that cooperate in providing movement. Kennedy disease is an illness that develops gradually. Kennedy disease sufferers frequently walk independently even as the disease progresses. In the latter stages, some may only be able to use wheelchairs. Individuals with Kennedy disease often live normal lives. Respiratory failure and pneumonia are the most frequent causes of death.

Frequently Asked Questions

1.

What Are The Management Options For Kennedy's Disease?

There are no cures yet found for the condition. Moreover, there are no medications as well that slow down the progression of this condition. In addition, to address the symptoms associated with this condition, physical therapy and rehabilitation are recommended.

2.

Is Als And Kennedy Disease The Same?

Amyotrophic lateral sclerosis and Kennedy disease both are forms of neuron disease. Both conditions show similar clinical representation. However, the involvement of upper motor neurons is absent in Kennedy disease.

3.

Kennedy Disease Also Known As?

The condition is named after William Kennedy, MD who had described this disease. Kennedy's disease is also known as spinal and bulbar muscular atrophy. This muscular atrophy or muscle weakness is caused by a disorder of neurons that controls the movement of the muscles.

4.

What Is The Prevalence Rate Of Kennedy Disease?

Kennedy disease is a very rare disease. Almost one in 40,000 people get this rare condition. Moreover, it is very rarely seen among females than males.

5.

What Is The Life Expectancy Of A Person With Kennedy Disease?

Kennedy’s disease is a rare condition. The condition and the symptoms associated with it, progress with time. There is no cure for the condition yet, but with the management of symptoms, a person can live an average life.

6.

Are Kennedy Ulcers Self-Curable?

The disease is not self-curable. Depending on the severity of the symptoms such as painful ulcers, they can last from two weeks to several months. With the help of supportive therapy and medication, the symptoms can be managed.

7.

How Can A Person Get Kennedy Disease In The Family?

Kennedy’s disease is associated with an X-linked genetic mutation. This means that the mothers’ defective X chromosomes are responsible for the mutation. Moreover, a girl child also carries a 50 percent of the chances to give this defective gene to their children, especially male children.

8.

Is Foster Kennedy Syndrome Pervasive?

Foster Kennedy syndrome is an extremely rare condition. Almost one in 40,000 people have it. Moreover, males are more affected than females.

9.

What Is The Significant Sign Of Kennedy's Disease?

Kennedy's disease has very specific symptoms, which are affected by muscle weakness. The weakness of the muscles usually starts with the pelvic or shoulder region. Moreover, with the progress of the condition the facial or tongue muscles are also affected.

10.

What Is The Development Rate Of Kennedy Ulcer Progression?

The Kennedy ulcer progresses within 24 hours. Usually, it takes weeks to months for the symptoms of the ulcers to go away completely. Thus, terminal ulcers occur very quickly in patients and progress at a rapid rate.

11.

What Does It Mean If You Have Kennedy Ulcer?

Kennedy ulcers occur due to insufficient blood and oxygen. When a person has this ulcer, this means that the skin is failing to receive these. This Means that the person is dying and the systems of the body are failing.

12.

How Long Does A Person Live With Motor Neuron Disease?

If a person has motor neuron disease, a patient’s life expectancy after diagnosis is considered to be one to five years. However, the life span of a patient differs from person to person. Ten percent of the patients with this condition live ten or more years.

13.

What Are The Different Types Of Motor Neuron Disorders?

The different types of motor neuron disorders are the following:
 - Amyotrophic lateral sclerosis.
 - Progressive muscular atrophy.
 - Primary lateral sclerosis.
 - Progressive bulbar palsy.

14.

Which Popular Person Had A Motor Neuron Disease?

Motor neuron disorders represent muscular weakness in a person. Stephen Hawking developed this condition in his early 20s. Most patients with this condition die within five years after the first diagnosis.
Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

Tags:

kennedy disease
Community Banner Mobile
By subscribing, I agree to iCliniq's Terms & Privacy Policy.

Source Article ArrowMost popular articles

Do you have a question on

kennedy disease

Ask a doctor online

*guaranteed answer within 4 hours

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.

This website uses cookies to ensure you get the best experience on our website. iCliniq privacy policy