Machado-Joseph Disease: Genetic Defect Affecting the Central Nervous System in Childhood

Children born with genetic disorders often face a life of debilitating complications. For some, the genetic disorder is not fully realized until later in life, when normal child growth and development has occurred, and then a sudden decline in health takes place. Often, this decline in health is seen first in the central nervous system and, for some children, the complication may be associated with a genetic disorder known as Machado-Joseph disease.

As a genetic defect, children who suffer from Machado-Joseph disease suffer from complications associated with defects of the chromosome 14. While the condition is considered a genetic defect, the complication generally does not affect more than one child in the family. While once considered exclusive to the Portuguese-Azorean descendent, today, it is found across all ethnic groups.

Symptoms of Machado-Joseph disease commonly appear in childhood, peaking in adolescence with a sudden onset of dystonia, an involuntary muscle movement or abnormal mobility with the inability to walk and stand normally. In advanced cases of Machado-Joseph disease, the child will begin to develop more complicated conditions such as involuntary eye movement.

To diagnose the symptoms associated with Machado-Joseph disease, the child will usually require genetic testing, especially when there are known family members who also experienced the same complication. Since Machado-Joseph disease is commonly confused with early onset of Parkinson's disease or Huntington's disease, it is not uncommon for the physician to suspect these diagnoses as well.