3 illnesses that only or mainly affect females

There are many rare illness in existence some 6000-7000 of them, with that number it would not be unusual for there to be some that either affect one sex more or affect only one.

In this article we will explore three that only or mainly affect women, Rett Syndrome, Turner syndrome and Aicardi syndrome.

That being said there have been some instances where males have been also diagnosed with the illness, but not at the same rate of females.

Rett syndrome

This a rare genetic disorder which affects about 1 in 10,000 girls and is very rarely seen in boys. It affects the development of the brain, which in turn results in severe physical and mental disability.

Most cases are a result of mutation in the MECP2 gene, which is found on the X chromosome. To put this into context the MECP2 gene contains the instructions for producing the protein needed for brain development, any mutation would prevent nerve cells in the brain from working properly. In almost all cases the mutation is spontaneous and occur randomly. Rett syndrome is described in 4 stages.

Stage 1 is sometimes referred to as stagnation. The child may seem to develop and grow normally for the first six months, though there may be subtle signs of Rett syndrome before being diagnosed. Symptoms may include:

• low muscle tone

• difficultly feeding

• repetitive, jerky or unusual limb movements

• speech development delays

• no interest in toys

• mobility problems

Stage 2 is referred to as regression where the child starts to loose their abilities. This starts between the age of 1 to 4 and can last any where from 2 months to over 2 years. Severe problems with communication, language, co-ordination and other functions may gradually or suddenly occur. Symptoms may include:

• the ability to use their hands in a purposeful manner

• seeming irritable, distressed or screaming for no reason

• avoiding eye contact and loss of interest in people

• unsteady walking

• not sleeping properly

• slowing of head growth

• chewing and digestion issues, leading to constipation and stomach aches

• heart rhythm and rate problems

Stage 3 is known as plateau, and may start at 2 years or 10 years old. It can last for years or for many it may be the rest of their lives. At this point some of the symptoms from stage 2 may improve like behaviour, attention and communication, walking, and a decrease in crying and becoming irritable. Other symptoms at this stage may include:

• seizures

• gaining and maintaining weight may be an issue

• irregular breathing patterns may get worse

Stage 4 is deterioration in movement which can last for years or for the rest of their lives. Some of the main symptoms at the stage can include:

• loss of ability to walk

• a spinal curve known as scoliosis

• muscle weakness

• Losing the ability to walk

Many with this illness reach into adulthood and those less severely affected can live into old age, however complications such as heart rhythm abnormalities, pneumonia and epilepsy may result in a death at a younger age.

Turner syndrome

This genetic disorder affects only females currently about 1 in 2000. Turner syndrome causes a chromosome variation in the womb, where the female only has 1 X sex chromosome and not the usual 2. Most will grow up with underdeveloped ovaries, to be shorter than average, have distinctive features and other possible health conditions.

Here are some of the other possible symptoms:

• Thick neck tissue

• swelling of the neck

• heart conditions

• abnormalities with the kidneys

• born with swollen hands and feet

• a short forth finger or toe

• spoon shaped nails

• arms turn out slightly at the elbows

• a low hairline

• teeth problems

• eyes that slant downwards

• lazy eye

• short sightedness

• a squint

• droopy eyelids

• low set ears

• middle ear infections

• hearing loss

Turner syndrome can include other health symptoms that include osteoperosis (brittle bones), scoliosis (curve in the spine), diabetes, heart murmurs, kidney and urinary tract problems, bleeding in the digestive system and other digestive symptoms such as Crohn's disease.

Most girls with this illnesses have some difficulty understanding their relation to other people or objects. Also at some point they are likely to experience acting impulsively or having a lack of danger, short attention spans and constant fidgeting.

Aicardi syndrome

This is a rare genetic disorder that affects females almost exclusively with an estimated 1 in 100,000 to 167,000 in the USA, and globally around 4000 individuals live with the syndrome. There are three main features that occur in most affected individuals, including:

• having an absent or underdeveloped tissue connecting the left and right halves of the brain also referred to as agenesis or dysgenesis of the corpus callosum (the primary function of the corpus callosum is to integrate and transfer information from both cerebral hemispheres to process sensory, motor, and high-level cognitive signals)

  
  

• seizures that begin in infancy, which progress to recurrent seizures (epilepsy)

  
  

• affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

Aicardi syndrome often presents other brain abnormalities, which include different shapes and sizes between both sides of the brain, cysts, and enlargement of the fluid-filled cavities near the centre of the brain.

Most have moderate to severe development delay and intellectual disability, although some may have milder disability.

There may be some noticeable physical features such as a short area between the upper lip and the nose, a flat nose with an upturned tip, large ears, and thin or spaced out eyebrows. Hand malformations or small hands are some other possible features, spinal and rib abnormalities that become progressively worse and leading to scoliosis. There is often issues with reflux, feeding, constipation and diarrhoea.

As with most illnesses the severity of Aicardi syndrome various from individual to individual and some who have very severe epilepsy may not survive past childhood. Those who are less severely affected may live into adulthood.

Additional information

The above illnesses are in most instances sporadic in nature and are not inherited, with no past history of the illness in their family.

Not all the symptoms appear at an early age and some may improve later on such as in stage 3 with Rett Syndrome.