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Multiple Sclerosis and Myotonic Distrophy

A rare case of a patient suffering from myotonic dystrophy combined with multiple sclerosis is presented. A 33-year-old man from Istria had transient left hand palsy at the age of 31, and two years later palsy of the left leg, together with paresthesia of the left cheek, and diplopia. For many years before he had frontal baldness and myopathic facial appeareance, with myothonia of flexor hand muscles. On admission, he presented with spastic ataxia, left hemiparesis, hypoesthesia and hypopalesthesia, and signs of left oculomotor nerve palsy. In some muscles signs of myotonia were present. Creatine phosphokinase (CK)(205 U/L) and serum level of IgG decreased (4, 2 g/L)(n.v.7-17g/L). The values of IgA, IgM, hepatitis markers, TPHA, viral serology and cerebrospinal fluid (CSF) were normal. An increased level of protein (0.53g/L) in CSF was found. EMG showed marked myopathic changes along myotonic discharges in the examined muscles. DNA analysis by polymerase chain reaction (PCR)and hybridisation by Souther tecnique showed one normal allele with 12 triplets cytosine-thiamine-guanine (CTG), and a mutated allele with more than 259 triplets in the same gene. The patient's mother had one mutated allele with 218 triplets of CTG. CT scan was normal. To our knowledge this is the second case of this rare combination of two different diseases in the literature.

Multiple Sclerosis; Myotonic Muscular Dystrophy

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