The following information may help to address your question:
What are the signs and symptoms of Usher sydrome?
Researchers have identified three major types of Usher
syndrome, designated as types I, II, and III. These types are distinguished mainly by their severity, and the age when signs and symptoms appear. These types are also further divided into subtypes.
[1]
Usher syndrome type I characterized by:
- Severe hearing loss or deafness at birth or developing within the first year of life
- Progressive visions loss, starting during infancy, caused by retinitis pigmentosa
- Balance and equilibrium issues due to problems within the vestibular system (the sensory apparatus of the inner ear that helps the body maintain its postural equilibrium)
- Motor delay, manifested by children sitting independently and walking later than usual.
Usher syndrome type II characterized by:
- Hearing loss from birth, usually milder than type I and mainly affects high tones. Children with Usher syndrome type II have problems hearing high, soft, speech sounds such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition.
- Progressive vision loss that begins in adolescence or adulthood.
- Absence of any balance or equilibrium problems.
Usher syndrome type III characterized by:
- Progressive hearing loss which begins during the first few decades of life. Therefore, unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf.
- Progressive vision loss developing in late childhood or adolescence.
- Variable balance issues, due to vestibular system problems.
For additional information about subypes please visit the OMIM
phenotype series link:
https://www.omim.org/phenotypicSeries/PS276900
Last updated: 3/16/2017
Are irregular menstrual cycles, migraine headaches, and obesity symptoms of Usher syndrome?
After completing a careful search in the medical literature, we were not able to find a connection between Usher syndrome and irregular menstrual cycles, migraine headaches, and obesity.
We suggest you discuss these symptoms with your daughter's medical team.
Last updated: 12/8/2016
What are ciliopathies?
Cilia, tiny hair-like organelles that project from
cell surfaces, have different roles within the body, including movement of cells and fluid, function of the senses (vision, hearing taste, smell, and touch), and sexual reproduction.
[2] Cilia are located in many
tissues throughout the body. Doctors and scientists are just now beginning to understand how defects in cilia can cause disease and dysfunction.
[3] Defects in cilia are associated with a range of human diseases which have come to be called "ciliopathies".
[2][3]
Last updated: 12/8/2016
What are the symptoms of ciliopathies?
Ciliopathies have a broad range of features and may be associated with a number of different genetic disorders. Symptoms include hearing loss,
developmental delay,
situs-inversus (where some or all of the
organs are reversed), infertility, disorders of limb and digit formation, obesity,
kidney disease, liver disease, and respiratory disease.
[2][4] [5]
Some examples of ciliopathies include
primary ciliary dyskinesia,
hydrocephalus,
polycystic liver and
kidney disease, and some forms of retinal degeneration. Ciliary defects have also been found to contribute to a broader set of developmental and adult conditions, such as
nephronophthisis,
Bardet-Biedl syndrome,
Alstrom syndrome, and
Meckel-Gruber syndrome.
[2][5]
Last updated: 12/8/2016
Is Usher syndrome a ciliopathy?
Usher syndrome is considered to be a ciliopathy. Although the functions of many of the
proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins results in a wide variety of symptoms including retinal degeneration (
retinitis pigmentosa). Retinal degeneration associated with Usher syndrome is considered to be a retinal ciliopathy. Understanding that this condition is a ciliopathy may help the
ophthalmologist to recognize associations between seemingly unrelated symptoms or diseases and keep a better eye out for other findings that may be present.
[4][6]
Last updated: 12/8/2016
Will my daughter exhibit symptoms of other ciliopathies?
The answer to this question is unclear at this time and may depend on a number of variables. What is understood is that individuals with ciliopathies often do exhibit systemic features which have been associated with this type of condition. Systemic findings including neurosensory hearing loss, developmental delay,
situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease are commonly associated with the ciliopathies and may be seen in individuals regardless of their specific diagnosis.
[4]
For the best assessment of your daughter's risk to develop these symptoms and/or to determine if her current symptoms may be attributed to a ciliopathy, please consult with her doctors.
Last updated: 12/8/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
contact us.
Warm regards,
GARD Information Specialist
Please see our Disclaimer.
