[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients].
Limb-girdle muscular dystrophies (LGMD) are autosomal disorders with a range of manifestations varying from almost asymptomatic late-onset patients to severe childhood onset forms. Recently identified disease genes explain the majority of LGMD cases in Finland. Prognosis, potential cardiac and respiratory complications and symptomatic treatment options differ in different LGMD subtypes. This means that the gold standard of diagnosis is the molecular genetic definition of the disease in each patient. Despite evolving sequencing techniques, the clinical, pathological, neurophysiological and imaging characterisation of patients will not become obsolete, but rather, even more important during the next years to enable targeted genetic diagnostics.
TYKS, neurologia.
Manu
M
Jokela
Johanna
J
Palmio
Satu
S
Sandell
Sini
S
Penttilä
Tiina
T
Suominen
Bjarne
B
Udd
D003952:Diagnostic Imaging; D005260:Female; D005387:Finland / Q000453:epidemiology; D005819:Genetic Markers; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D011379:Prognosis
D005819:Genetic Markers