Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, mental retardation, or stupor. Involvement of the AHC gene can produce life-threatening adrenal insufficiency, sexual ambiguity, and electrolyte abnormalities. These associated conditions can make the diagnosis of DMD difficult. Neuromuscular specialists need to be aware of this contiguous gene syndrome because the potential life-threatening complications of GKD and AHC can be treated.
Amato
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From the Department of Neurology, Brigham and Women's Hospital, Boston, MA.