Laboratory Abnormalities in Ambulatory Patients With Myotonic Dystrophy Type 1

Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort

“…These data align with prior works that reported increased serum total cholesterol or low-density lipoprotein levels in more than half of DM2 cohorts [ 15 , 32 ]. A higher risk for metabolic syndrome in DM2 patients relative to DM1 and general population has been postulated [ 33 , 34 ], and our findings support that those DM2 patients with PROMM phenotype may be more susceptible to develop it. Furthermore, eight out of the 11 non-PROMM DM2 to PROMM DM2 converters in our cohort developed dyslipidemia which was considered a manifestation of multiorgan involvement in our study.…”

Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort

“…These data align with prior works that reported increased serum total cholesterol or low-density lipoprotein levels in more than half of DM2 cohorts [ 15 , 32 ]. A higher risk for metabolic syndrome in DM2 patients relative to DM1 and general population has been postulated [ 33 , 34 ], and our findings support that those DM2 patients with PROMM phenotype may be more susceptible to develop it. Furthermore, eight out of the 11 non-PROMM DM2 to PROMM DM2 converters in our cohort developed dyslipidemia which was considered a manifestation of multiorgan involvement in our study.…”

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

“…Moreover, contractions of bile canaliculi and bile ductules (29) could be responsible for the elevation of γGT detected in DM1 patients (10,(31)(32)(33), that we confirmed also in our DM1 cohort (65% of cases). Also, our laboratory findings confirmed, in agreement with previous studies (29,(33)(34)(35), increased levels of serum alkaline phosphatase, GPT, triglycerides, and total cholesterol values in a significant percentage of DM1 patients ( Table 1), although with some differences in the individual prevalence of such alterations possibly depend on different dietary habits.…”

Laboratory Abnormalities in Patients With Myotonic Dystrophy Type 2

“…Although the present study demonstrated a similar elevation in CK levels (31 of 40 patients tested [78%]), only 33% of the patients had elevations in their GGT levels. Compared with a similarly studied DM1 population, 5 on average, the present patients with DM2 had higher CK levels (DM2: 537 U/L; DM1: 183 U/L [to convert to microkatals per liter, multiply by 0.0167]) and lower GGT levels (DM2: 61.1 U/L; DM1: 110.4 U/L [to convert to microkatals per liter, multiply by 0.0167]).…”

“…Compared to a similarly studied myotonic dystrophy type-1 (DM1) population, on average, the present DM2 patients had higher CK levels (DM2: 537 u/L; DM1: 183 u/L) and lower GGT levels (DM2: 61.1 u/L; DM1: 110.4 u/L). (5)…”

Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort

“…These data align with prior works that reported increased serum total cholesterol or low-density lipoprotein levels in more than half of DM2 cohorts [ 15 , 32 ]. A higher risk for metabolic syndrome in DM2 patients relative to DM1 and general population has been postulated [ 33 , 34 ], and our findings support that those DM2 patients with PROMM phenotype may be more susceptible to develop it. Furthermore, eight out of the 11 non-PROMM DM2 to PROMM DM2 converters in our cohort developed dyslipidemia which was considered a manifestation of multiorgan involvement in our study.…”

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

“…Moreover, contractions of bile canaliculi and bile ductules (29) could be responsible for the elevation of γGT detected in DM1 patients (10,(31)(32)(33), that we confirmed also in our DM1 cohort (65% of cases). Also, our laboratory findings confirmed, in agreement with previous studies (29,(33)(34)(35), increased levels of serum alkaline phosphatase, GPT, triglycerides, and total cholesterol values in a significant percentage of DM1 patients ( Table 1), although with some differences in the individual prevalence of such alterations possibly depend on different dietary habits.…”

Laboratory Abnormalities in Patients With Myotonic Dystrophy Type 2

“…Although the present study demonstrated a similar elevation in CK levels (31 of 40 patients tested [78%]), only 33% of the patients had elevations in their GGT levels. Compared with a similarly studied DM1 population, 5 on average, the present patients with DM2 had higher CK levels (DM2: 537 U/L; DM1: 183 U/L [to convert to microkatals per liter, multiply by 0.0167]) and lower GGT levels (DM2: 61.1 U/L; DM1: 110.4 U/L [to convert to microkatals per liter, multiply by 0.0167]).…”

“…Compared to a similarly studied myotonic dystrophy type-1 (DM1) population, on average, the present DM2 patients had higher CK levels (DM2: 537 u/L; DM1: 183 u/L) and lower GGT levels (DM2: 61.1 u/L; DM1: 110.4 u/L). (5)…”

Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort

“…These data align with prior works that reported increased serum total cholesterol or low-density lipoprotein levels in more than half of DM2 cohorts [ 15 , 32 ]. A higher risk for metabolic syndrome in DM2 patients relative to DM1 and general population has been postulated [ 33 , 34 ], and our findings support that those DM2 patients with PROMM phenotype may be more susceptible to develop it. Furthermore, eight out of the 11 non-PROMM DM2 to PROMM DM2 converters in our cohort developed dyslipidemia which was considered a manifestation of multiorgan involvement in our study.…”

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

“…Moreover, contractions of bile canaliculi and bile ductules (29) could be responsible for the elevation of γGT detected in DM1 patients (10,(31)(32)(33), that we confirmed also in our DM1 cohort (65% of cases). Also, our laboratory findings confirmed, in agreement with previous studies (29,(33)(34)(35), increased levels of serum alkaline phosphatase, GPT, triglycerides, and total cholesterol values in a significant percentage of DM1 patients ( Table 1), although with some differences in the individual prevalence of such alterations possibly depend on different dietary habits.…”

Laboratory Abnormalities in Patients With Myotonic Dystrophy Type 2

“…Although the present study demonstrated a similar elevation in CK levels (31 of 40 patients tested [78%]), only 33% of the patients had elevations in their GGT levels. Compared with a similarly studied DM1 population, 5 on average, the present patients with DM2 had higher CK levels (DM2: 537 U/L; DM1: 183 U/L [to convert to microkatals per liter, multiply by 0.0167]) and lower GGT levels (DM2: 61.1 U/L; DM1: 110.4 U/L [to convert to microkatals per liter, multiply by 0.0167]).…”

“…Compared to a similarly studied myotonic dystrophy type-1 (DM1) population, on average, the present DM2 patients had higher CK levels (DM2: 537 u/L; DM1: 183 u/L) and lower GGT levels (DM2: 61.1 u/L; DM1: 110.4 u/L). (5)…”