[Diagnosis and therapy of myotonic dystrophy in our practice of neuromuscular care].
BACKGROUND
Myotonic dystrophy is the most frequent, autosomal dominantly inherited muscular dystrophy. The typical neurological picture (facial myopathy, myotonia, muscle atrophy) may be associated with cardial, endocrine and ocular symptoms.


METHODS
The diagnosis is based on electromyography, muscle biopsy and genetical tests. Muscle histology is characterized by high frequency of central nuclei. Genetical tests detect CTG repeat expansion of the involved gene.


OBJECTIVE
Authors summarize 9 cases found in the Neurology Clinic of Pecs University in the last three years.


RESULTS
The prevalence is lower than expected, therefore some cases might be unrecognized. After recognizing the typical clinical picture, electrophysiological, muscle biopsy, brain MRI, psychologic and molecular genetic studies were performed. Six patients belonged to 3 families and 3 sporadic cases were found. In all except one patient mild neurocognitive deficit was detected. Three patients had cataract and cardiac involvement.


CONCLUSIONS
The authors emphasize that in cases of cardial, endocrine and central nervous system involvement myotonic dystrophy must be considered and detailed examinations are necessary for early detection of the specific organ manifestations.
Merkli
Hajnalka
H
Pécsi Tudományegyetem, Altalános Orvostudományi Kar. czal@in1st.szote.u-szeged.hu
Pál
Endre
E
Trauninger
Anita
A
Kosztolányi
Péter
P
Gáti
István
I
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D012189:Retrospective Studies