Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

Abstract

AimsAs of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.MethodsSix hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004–2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD.ResultsA total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm.ConclusionsThe study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.

Skeletal muscle and fiber type-specific intramyocellular lipid accumulation in obese mice

“…For histological analysis transverse, 10 mm thick cryosections of the skeletal muscles cut with the cryomicrotome Leica CM 1950 (Leica Microsystems, Germany) were stained with hematoxylin and eosin (Sigma-Aldrich Corp, St. Louis, MO, USA) as described by Wang et al [ 22 ]. The skeletal muscle sections were analyzed for signs of atrophy, necrosis, regeneration, or inflammation by a trained evaluator blinded to group assignment [ 23 ].…”

Kakovost življenja oseb s Pompejevo boleznijo

“…Pogostost bolezni v Evropi je 1 na 100.000 prebivalcev. Glede na število rojstev je možnost obolenja 1 na 40.000; za Slovenijo to pomeni, da se v povprečju na dve leti rodi en pacient s Pompejevo boleznijo (Meznaric, Fumic, & Leonardis, 2019). Leta 2018 so bili v Sloveniji štirje pacienti, trije odrasli in en otrok (Leonardis, 2018).…”

“…Med prve znake bolezni spadajo postopno slabšanje hoje zaradi oslabelosti mišic, krči ter mišične bolečine. Kasneje se z napredovanjem bolezni pojavijo tudi motnje dihanja že pri manjših naporih ter tudi v nočem času, kar vodi do motenj spanja, jutranjih glavobolov in prekomerne utrujenosti čez dan; zmanjšana je tudi koncentracija, prav tako je značilen tudi slabši apetit (Meznaric et al, 2019). Pacienti s Pompejevo boleznijo so v raziskavi bolečino sicer opisali kot blago, vendar je kljub temu močno zmanjšala kakovost življenja ter prispevala k večji dovzetnost za depresijo in tesnobo (Güngör et al, 2013).…”