A movement disorder can start as a twinge. A child's leg turns in while walking. Writing becomes difficult, painful. For many, these types of diseases--broadly termed dystonias--progress no further than persistent muscle cramps. Yet in many children affected by rare, heritable, early-onset dystonia, a generalized movement disorder called torsion dystonia develops as well. The disorder can affect the entire body: Opposing muscles work against each other, twisting the posture, causing repetitive movements, or contorting arms and legs into unnatural positions. Oftentimes, the earlier in life symptoms appear, the worse they get.
To uncover the roots of this dominant trait, which has only 30% to 40% penetrance, researchers spent more than 15 years studying afflicted, diverse families and a population of Ashkenazi Jews to zero in on a responsible mutation: a three-basepair deletion in DYT1 that appears exactly the same across ethnic groups.1 Recent efforts to elucidate the function for torsinA--the ...
