What are Rare Degenerative Diseases?

Rare degenerative diseases – causes and symptoms

Degenerative diseases are those in which a breakdown in the cells of the body lead to a deterioration in how parts of the body function. These cell changes generally affect the tissue and organs of the body. Very often there are no treatments or cures for this degeneration, although therapies and treatments may be available to alleviate symptoms related to it. 

They can affect the nervous system of the body (including the brain) as Alzheimer’s does, the circulatory system, or be neoplastic (cancers). 

Rare degenerative diseases meet the criteria for a degenerative disease, in terms of their symptoms, but also have a genetic cause as well as other potential symptoms. 

Examples of these include Ehlers-Danlos syndrome, Marfan syndrome, and Tay-Sachs.


Ehlers-Danlos syndrome

There are 13 recognised types of Ehlers-Danlos, each of which share certain symptoms, although the precise symptoms for each type are unique to that form of the syndrome. This degenerative genetic disorder affects multiple parts of the body, and can be notoriously difficult to diagnose. As a degenerative disease some symptoms of the syndrome worsen with time, and these include decreasing muscle tone. 

Marfan syndrome

Marfan is a connective tissue disorder. As a degenerative disease, many of its symptoms are not identified until later in childhood, and in some instances into adulthood. The syndrome mainly affects the eyes, skeleton and heart – with cardiovascular symptoms being potentially the most serious and severe. 

Tay-Sachs syndrome

The degenerative nature of Tay-Sachs results in its short life expectancy, and infants with the syndrome do not survive their first years of life. The degenerative nature of the syndrome leads to the destruction of the nerve cells in the brain and spinal cord. The first signs of the symptom are often a weakening of muscle tone in infancy, and regressive physical skills development. 

Rare degenerative diseases and genetic counseling

Anyone suspected of having a rare degenerative disease, either due to their exhibition of symptoms which relate to a genetic syndrome, or due to a family history, or based on the results of genetic screening and analysis, should undergo genetic counseling.

Genetic counseling is an essential service for potential rare disease patients, regardless of their specific symptoms, family history, or genetic screening results. Genetic counseling can help with the diagnosis of rare degenerative diseases, and at the same time all types of genetic syndromes. Genetic counseling services improve the rate of accuracy when it comes to rare disease diagnosis. It can also help us fully understand how rare are rare diseases

It can also help an individual and family come to terms with a rare disease diagnosis, and help them understand the best course of action moving forward post diagnosis. It can also educate and empower families with knowledge about specific rare diseases and genetic syndromes. 


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