My family is from the islands of Azores. I can trace for the last three generations an unknown genetic disease associated with: (1) no ability to walk or use arms (2) no ability to talk (3) wondering eyes (4) onset of the disease is noticed by the mothers are early as 6 months (baby). I know the Machado-Joseph disease is prevalent in the Azores and usually has an onset around the age of 30 years.
My question is: Could the Machado disease have an onset as early as 6 months? If not, is there any of the associated atraxias with such early onset? Is Machado disease a metabolic disease?
Thank you for your questions. Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a genetic condition that runs in families in an autosomal dominant way. If someone has MJD, there is a 50% chance of passing it on to each child he/she has. And you are correct that the age of onset ranges from the 20’s to the 50s. People with MJD often have trouble walking and talking, double and blurred vision, and wasting of muscles. These problems often progress over time. MJD was first described in immigrants from the Portuguese Azorean islands.
It sounds like your family would benefit from seeing a geneticist to help determine what could be causing the features that you are describing among multiple generations in your family. There are several genetic conditions that cause neurological problems in young babies, and some of these are metabolic problems, but MJD is not a metabolic disease. A geneticist will conduct a detailed physical exam and may also order blood work to help determine the cause of the symptoms in your family. You can find a medical geneticist through the American College of Medical Genetics. Best wishes to you and your family.
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