TY - JOUR
T1 - Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects
AU - D'Adda, Elisabetta
AU - Sciacco, Monica
AU - Fruguglietti, Maria Elisa
AU - Crugnola, Veronica
AU - Lucchini, Valeria
AU - Martinelli-Boneschi, Filippo
AU - Zecca, Chiara
AU - Lamperti, Costanza
AU - Comi, Giacomo Pietro
AU - Bresolin, Nereo
AU - Moggio, Maurizio
AU - Prelle, Alessandro
PY - 2006/11
Y1 - 2006/11
N2 - Six years befor the present study we performed a retrospective study of 114 subjects presenting with asymptomatic / oligosymptomatic hyperckemia (raised creatine kinase blood levels), a diagnosis being made in 21 of them. We now present the results of a long-term follow-up in 55 of the still undiagnosed 93 individuals. Most of them have remained asymptomatic and did not develop specific neuromuscular disorders. One subject became frankly symptomatic manifesting limb-girdle weakness. A diagnosis of dystrophinopathy carrier and one of possible type I SMA carrier were indirectly made in another two subjects. Almost all subjects still have hyperckemia, though the mean creatine kinase (CK) value is lower than before. CK levels have become normal in 12 subjects. Two died of neoplasia, and six developed non-neuromuscular disorders. We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination.
AB - Six years befor the present study we performed a retrospective study of 114 subjects presenting with asymptomatic / oligosymptomatic hyperckemia (raised creatine kinase blood levels), a diagnosis being made in 21 of them. We now present the results of a long-term follow-up in 55 of the still undiagnosed 93 individuals. Most of them have remained asymptomatic and did not develop specific neuromuscular disorders. One subject became frankly symptomatic manifesting limb-girdle weakness. A diagnosis of dystrophinopathy carrier and one of possible type I SMA carrier were indirectly made in another two subjects. Almost all subjects still have hyperckemia, though the mean creatine kinase (CK) value is lower than before. CK levels have become normal in 12 subjects. Two died of neoplasia, and six developed non-neuromuscular disorders. We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination.
KW - Asymptomatic subjects
KW - CK
KW - Follow up
KW - Hyperckemia
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U2 - 10.1007/s00415-006-0223-y
DO - 10.1007/s00415-006-0223-y
M3 - Article
C2 - 16773272
AN - SCOPUS:33845696843
VL - 253
SP - 1399
EP - 1403
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 11
ER -