Naslov
Multiple Sclerosis and Myotonic Distrophy

Autori
Marković, Dubravko ; Radolović-Prenc, Lorena ; Sepčić, Juraj

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Neurol.Croat. 53 (Suppl.3:1-140) / Hajnšek, S. ; Išgum, V. ; Mitrović, Z. - Zagreb, 2004, 122-123

Skup
1st Croatian Congress on Neuromuscular Diseases

Mjesto i datum
Dubrovnik, Hrvatska, 21.09.2004. - 26.09.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Multiple Sclerosis; Myotonic Muscular Dystrophy

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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