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Pregled bibliografske jedinice broj: 179585

PROMM: clinical and electromyographic features in a family from northern Croatia


Žagar, Marija; Mitrović, Zoran; Mitrović, N; Ursu, SF; Jurkat-Rott, K; Lehmann-Horn, F
PROMM: clinical and electromyographic features in a family from northern Croatia // Neurologia Croatica. Supplement, 53 (2004), Suppl 3; 133-134 (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)


CROSBI ID: 179585 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
PROMM: clinical and electromyographic features in a family from northern Croatia

Autori
Žagar, Marija ; Mitrović, Zoran ; Mitrović, N ; Ursu, SF ; Jurkat-Rott, K ; Lehmann-Horn, F

Izvornik
Neurologia Croatica. Supplement (1331-5196) 53 (2004), Suppl 3; 133-134

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
PROMM; clinics; Croatia

Sažetak
Proximal myotonic dystrophy (DM2) is an autosomal dominant disease featuring slowly progressive proximal muscle weakness and stiffness, myotonia, and the signs of multisystem involvement, all less frequent or milder than in myotonic dystrophy (DM1). Also, distinct from DM1 are muscle pain, preserved tendon reflexes and calf hypertrophy. The disease is associated with an expanded CCTG repeat sequence in the first intron of the gene coding for zinc finger 9 protein (ZNF9)on chromosome 3. We present clinical and EMG data of the family from northern Croatia. Fourteen members were examined (7 M, 7 F, aged 15-68 years). Seven subjects had clear clinical and EMG signs of the disease, in 3 members the disease was suspected on EMG basis only, and in four no clinical or EMG signs of disease were found. Clinically affecetd patients complained of muscle pain, occasional stiffness and weakness, and prolonged relaxation after hand grip. In two female patients the symptoms started during pregnancy. Neurologic examination revealed one or more of the following signs: mild proximal muscle weakness, distal atrophy of thigh muscles, percussion and/or activation myotonia, and discrete facial weakness. EMG in affecetd patients featured prolonged repetitive discharges and myopathy. The repetitive discharges included prolonged insertional activity, typical decrescendo myotonic runs, high frequency repetitive discharges, and serial fibrillations or small motor units runs. DM2 was confirmed by molecular genetic testing. The results are presented in another paper. The main diagnostic difficulty is the variability of myotonia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
0108052

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Marija Žagar (autor)

Avatar Url Zoran Mitrović (autor)


Citiraj ovu publikaciju:

Žagar, Marija; Mitrović, Zoran; Mitrović, N; Ursu, SF; Jurkat-Rott, K; Lehmann-Horn, F
PROMM: clinical and electromyographic features in a family from northern Croatia // Neurologia Croatica. Supplement, 53 (2004), Suppl 3; 133-134 (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
Žagar, M., Mitrović, Z., Mitrović, N., Ursu, S., Jurkat-Rott, K. & Lehmann-Horn, F. (2004) PROMM: clinical and electromyographic features in a family from northern Croatia. Neurologia Croatica. Supplement, 53 (Suppl 3), 133-134.
@article{article, year = {2004}, pages = {133-134}, keywords = {PROMM, clinics, Croatia}, journal = {Neurologia Croatica. Supplement}, volume = {53}, number = {Suppl 3}, issn = {1331-5196}, title = {PROMM: clinical and electromyographic features in a family from northern Croatia}, keyword = {PROMM, clinics, Croatia} }
@article{article, year = {2004}, pages = {133-134}, keywords = {PROMM, clinics, Croatia}, journal = {Neurologia Croatica. Supplement}, volume = {53}, number = {Suppl 3}, issn = {1331-5196}, title = {PROMM: clinical and electromyographic features in a family from northern Croatia}, keyword = {PROMM, clinics, Croatia} }

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  • Excerpta Medica
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