The adult form of myotonic dystrophy type 1 is a neuromuscular disorder with multisystem involvement, including the central nervous system (CNS). The presenting clinical features of this condition include distal muscle weakness, myotonia, intellectual decline, cataract, frontal baldness and testicular atrophy. Magnetic resonance (MR) imaging shows characteristic white matter changes in the CNS. The clinical presentation, characteristic white matter changes in the brain on MR imaging and electromyographic findings aid in the diagnosis of this disorder.
Adult ; Atrophy ; complications ; Brain ; pathology ; Cataract ; complications ; Central Nervous System ; pathology ; Electromyography ; methods ; Hearing Disorders ; complications ; Humans ; Lactic Acid ; blood ; Magnetic Resonance Imaging ; methods ; Male ; Muscle Weakness ; complications ; Myotonic Dystrophy ; diagnosis ; pathology ; Neuromuscular Diseases ; diagnosis ; pathology