- Overview
- Fragile X-associated Primary Ovarian Insufficiency (FXPOI)
- Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Overview
Men and women with 55-200 CGG repeats have the Fragile X Premutation (FXpm). They may be affected, or not, by a range of Fragile X Premutation Associated Conditions (FXPAC). Research is currently being done in this field to gain a better understanding. The general advice is to treat symptoms as and when they occur and to look after yourself with a healthy diet and exercise, avoiding smoking and low to no alcohol.
The FXpm is common, and most people will not know they have it. Many people are asymptomatic. Prevalence numbers for the FXpm are estimated at 1 in 200-300 women and 1 in 500-600 men. The general population is not screened for the FXpm, though in some countries, for example Australia and Israel, those planning pregnancies can opt for FXpm testing. Those with the FXpm may wish to consider reproductive issues and make choices around future pregnancies. One option may be to access pre-implantation genetic testing (PGT).
Many of the symptoms linked to the FXpm occur in the general population. It is uncertain which symptoms are a result of natural occurrence and which might be directly linked to the FXpm.
What follows is a list of symptoms which those with the FXpm may experience, under the umbrella term Fragile X Premutation Associated Conditions (FXPAC). Please also see further information on Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Please note that there are no specific treatment recommendations for children with the FXpm. Research continues in this field, and any support should be person-centred and based on symptoms and individual needs.
| Possible Issues | Treatment/Support |
|---|---|
| Females: FXPOI — irregular periods, premature ovarian failure (POF), early menopause | POI clinic if available, gynaecologist, refer to local specialist clinic for early menopause |
| Family planning/fertility issues | Geneticist, fertility clinic, pre-implantation genetic testing (PGT) where available |
| Females: osteoporosis — related to low-hormone levels/FXPOI/early menopause | Identify and treat as appropriate |
| FXTAS: usually seen in FXpm over 50 — tremor, memory difficulties, balance problems, neuropathy, personality changes (mood instability or irritability), short-term memory issues, anxiety and depression | FXTAS clinic, ataxia clinic, neurology specialist, physical therapy, occupational therapy |
| Psychiatric issues: anxiety, depression | Identification is key — treat using standard approaches, refer to mental health services when required |
| Thyroid issues: hypothyroidism | Screening, treat using thyroxine if required |
| Fibromyalgia: muscle pain, chronic pain | Identify and refer to specialist services when required |
| Chronic Fatigue Syndrome (CFS) | Identify and refer to specialist services when required |
| میگرن | Identify and refer to specialist services when required |
| Cardiovascular problems: likely increased risk for hypertension and potentially other cardiovascular conditions | Identify and treat as appropriate, with referral to cardiology specialists as necessary |
Resources
- شکننده X Premutation شرایط مرتبط
- A holistic approach to fragile X syndrome integrated guidance for person-centred care
Fragile X-associated Primary Ovarian Insufficiency (FXPOI)
Females with the FXpm may experience Primary Ovarian Insufficiency (POI), otherwise referred to as Fragile X-associated Primary Ovarian Insufficiency (FXPOI). This may affect around 20% of FXpm women. FXPOI can present with milder symptoms, such as irregular menstrual cycle, or there might be a more severe presentation, such as early menopause (Primary Ovarian Failure or POF). Hormonal changes should be monitored in FXpm women. Women with FXPOI can still get pregnant, but they may have reduced fertility if they develop early menopause.
Individuals with FXPOI are at risk for developing osteoporosis due to premature menopause. Osteoporosis is a condition which results in weakened bones which gives them an increased likelihood to break. Osteoporosis is usually diagnosed via a bone density scan. Osteoporosis is usually treated using bone strengthening medications, however physical therapies can help to prevent situations likely to cause broken bones. Broken bones can often occur from falls, therefore keeping muscles toned and working on balance, particularly as ageing occurs, can help to minimise the likelihood of falls.
People with FXPOI may also experience symptoms of fibromyalgia and widespread muscle pain. This may make exercising and maintaining muscle tone more difficult. A physical therapist can suggest low impact exercises or adapt exercises to make them more suitable.
Resources
- Further information is available for FXPOI
- Three Faces of Fragile X
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) may affect both men and women with the FXpm over the age of 50 but is seen more in male carriers (40%) and less in females (8-16%). The majority of those with the FXpm will not develop FXTAS.
FXTAS is a degenerative neurological condition characterised by tremor, ataxia and gradual cognitive decline. If you experience any of these symptoms, see professional assessment by an FXTAS or an ataxia specialist, who can test, diagnose and offer support for your symptoms.
The most common symptoms of FXTAS are
- Cerebellar ataxia (cerebellar = caused by the brain, ataxia = loss of function)
- Slow gait
- Intention tremor (tremor when exhibiting movement rather than resting)
- Parkinson’s type symptoms
People with FXTAS are more likely to suffer from falls due to the neurodegenerative nature of the condition. Often physical therapies for FXTAS focus on sustaining skills and fitness. The progression of FXTAS cannot be prevented therefore many of the exercises will aim to assist quality of life and attempt to retain some of the skills which are affected.
Research into FXTAS is still quite limited, however there is evidence that body weight supported treadmill training can help with symptoms and overall health.
Some physical therapies may include the use of aids to help in day to day life, however this may be better managed by an occupational therapist than a physical therapist.
Resources
- Three Faces of Fragile X
- Further information is available on FXTAS
- Fragile X Tremor-Ataxia Syndrome Physiopedia
