Understanding the Genetics of Batten Disease
Batten disease is a genetically inherited disorder characterized by an autosomal recessive pattern of inheritance. This means that the disease is caused by receiving a defective gene from both parents. Individuals who possess only one copy of the defective gene are known as carriers, meaning they do not develop the disease themselves, but can potentially pass it on to their offspring. When two carriers have a child, there is a one in four chance that the child will develop Batten disease.
The primary risk factors associated with Batten disease include having a parent who has the disease or one who is a carrier of the defective gene.
Symptoms of Batten Disease
When it comes to Batten disease, symptoms can differ from one person to another. However, similar to other neurodegenerative diseases, this condition often presents with a range of severe and worsening neurological and motor issues. The specific symptoms associated with Batten disease include retinal abnormalities that result in vision loss, reduced muscle tone, metabolic irregularities, movement disorders, failure to achieve developmental milestones, and difficulties with speech.