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Kennedy's Disease

Name of disease:

Kennedy's Disease

ICD-10 diagnosis code:

G12.2

Causes:

Kennedy’s Disease is caused by a mutation in the AR gene which is passed on from parent to child. This can cause damage to the muscles and nerves that control voluntary muscle movement.

Mode of inheritance:

Both males and females can pass the affected gene to their children.
Females carrying the affected genes have a 1 in 2 chance of passing it on to their sons and daughters.
Males do not pass it on to their sons but will pass it to all their daughters who will become carriers of the disease.

Prevalence:

Approximately 1:200000 people worldwide; mostly occurs in males

Diagnosis:

Blood test to check a person’s DNA for the defective chromosome

Age of onset:

Kennedy's Disease is an adult-onset disease with symptoms usually appearing between the age of 30 and 50.

Common signs and symptoms:

The main symptoms for women are muscle cramps and fatigue but it is unusual for women to develop any symptoms even if they carry the gene responsible for the disease.
The symptoms in men are:
- Fatigue
- Twitching
- Tremor and muscle cramps
- Muscle weakness
- Enlarged breast glands
- Reduced sex drive
- Reduced fertility
- Swallowing difficulties
- Slurred speech

Available treatment (medicinal and non-medicinal):

There is no known treatment or cure for Kennedy’s Disease.
Physical therapy, occupational therapy, and speech therapy are commonly used to help patients adapt and maintain skills as the disease progresses.
Braces, walkers, and wheelchairs are used for ambulation.
Breast reduction surgery is sometimes used as needed in patients with gynecomastia.

Disease management tips:

Nutritional management is essential for those living with KD. While there is no clinically approved diet for KD patients outside of the French National Protocol, food supplements are used by some patients to ensure they consume enough protein, energy, and vitamins.
Taking more frequent breaks
Maintaining a positive mindset
Adapting eating and swallowing activities
Asking for help
Planning well in advance
Maintaining a strong faith
Adaptations to speech activities
Breathing and relaxation techniques
Relying on social support, including support in the KD community, counseling, and psychotherapy

Kennedy's Disease

Name of disease:

ICD-10 diagnosis code:

Causes:

Mode of inheritance:

Prevalence:

Diagnosis:

Age of onset:

Common signs and symptoms:

Available treatment (medicinal and non-medicinal):

Disease management tips:

References: