You can request genetic counselling through your GP or access it privately. You can also self-refer to the Kennedy’s Disease Clinic in London. A genetic counsellor will specifically discuss the risk of family members developing KD and explain how the X-linked recessive mode of transmission works. The genetic counsellor will also discuss with you the probability of passing on the Kennedy’s Disease mutation to children. Genetic counselling will normally precede any genetic testing as some people may decide, after counselling, not to be tested.

For those planning families, there are options to see if the gene defect is present through prenatal or preimplantation diagnosis. A potential parent may also wish to explore options such as using donor eggs, donor sperm, or adoption.

People with Kennedy’s can be referred, or self-refer, to the clinic by emailing uclh.kdregister@nhs.net or call the team on 020 3108 7507.

Symptoms in men typically arise between ages 20 and 40, though cases have been observed from the teens to the 70s. Early signs include tremors in the hands, muscle cramps with exertion, and fleeting muscle twitches (fasciculations). As the disease progresses, individuals may experience limb weakness, often starting in the pelvic or shoulder regions. Facial and tongue muscle weakness can lead to difficulties in swallowing and speaking, along with other complications like enlarged male breasts, low sperm count, infertility, or non-insulin-dependent diabetes mellitus.

For women who carry the gene responsible for Kennedy’s disease, symptoms are often either absent or very mild. However, when symptoms do occur, they usually only involve muscle cramps and fatigue.

Since Kennedy’s disease is rare, it can be misdiagnosed. It is sometimes mistaken for the more common motor neurone disease (amyotrophic lateral sclerosis), a progressive nervous system disease characterised by the breaking down of neurones in the spinal cord and brain.

Kennedy’s disease can be diagnosed using several tests including:

• Blood test to check for elevated serum creatine kinase (CPK) – people with Kennedy’s disease usually have a greater than average amount of this particular enzyme circulating in their blood.
• Genetic tests using a blood sample – this test can check whether the Kennedy’s disease gene is present, even if the person is asymptomatic or a carrier. Genetic counselling is important.

Genetic Testing: Genetic testing is the gold standard method for diagnosis of SBMA and is important for diagnostic and medical management of symptomatic carriers. Often, however, carriers only find out they have an X- linked condition when a male relative is diagnosed. For family planning purposes genetic determination of carrier status is required before any preconception (preimplantation genetic screening-PGS) or post conception screening procedures (chorionic villus sampling or amniocentesis). Genetic testing is a very personal choice based on many factors—such as a person’s risk status, health status (symptomatic), age, timing/family planning status, as well as lifestyle/personal and religious beliefs. A genetic counsellor can help individuals make an informed decision about genetic testing.

Genetic Counselling: Genetic counsellors work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. A genetic counsellor will provide a risk assessment based on one’s family history, discuss pros and cons of genetic testing, test costs, and insurance coverage, discuss family planning, and help individuals make an informed decision that is best for them.