PMID- 21694643
OWN - NLM
STAT- MEDLINE
DCOM- 20110830
LR  - 20210108
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 90
IP  - 4
DP  - 2011 Jul
TI  - Organ dysfunction and muscular disability in myotonic dystrophy type 1.
PG  - 262-268
LID - 10.1097/MD.0b013e318226046b [doi]
AB  - Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized by 
      muscle weakness and multiple organ impairment, especially the eyes, lung, and 
      heart. We conducted the current study to analyze the prevalence and 
      intercorrelation among these disorders and their respective relationships with 
      muscular disability. We assessed medical history, anthropometric data, lung 
      volumes, arterial and venous blood samples, surface 12-lead electrocardiogram, 
      echocardiography, ophthalmologic examination, and muscular impairment rating 
      scale (MIRS) in 106 patients (48 male and 58 female) with DM1, aged 43.7 +/- 12.8 
      years. Obesity, hypertriglyceridemia, and diabetes were found in respectively 
      25.6%, 47.6%, and 17.1% of patients. Disabling cataract was found in 43.4%, and 
      was independently predicted by age and MIRS. Restrictive lung disease was noted 
      in 34%, and was predicted by MIRS, CTG repeat expansion, and body mass index. 
      Conduction disorders were found in 30.2% of patients and were predicted by left 
      ventricular ejection fraction, MIRS, and CTG repeat expansion.We found 
      significant relationships between cataract, restrictive lung disease, and 
      conduction disorders: patients with cataract and those with conduction disorders 
      exhibited more severe restrictive lung disease than the other patients. 
      Conversely, the relative risk of restrictive lung disease was 2.42 (1% confidence 
      interval [CI], 1.06-5.51) in patients with cataract and 2.54 (1% CI, 1.26-5.07) 
      in patients with conduction disorders. Multivariate analysis revealed that MIRS 
      was the only independent predictor for conduction disorders and restrictive lung 
      disease. MIRS >/=3 and MIRS >/=4 were the best simple cutoff values to predict, 
      respectively, lung and cardiac involvements.To conclude, muscular disability, 
      ophthalmologic, and cardiac and pulmonary involvement are strongly correlated. 
      Particular attention should be given to these entities in patients with distal or 
      proximal muscular weakness.
FAU - Kaminsky, Pierre
AU  - Kaminsky P
AD  - From Medecine Interne (PK, LP, JD), Laboratoire d'Explorations Fonctionnelles 
      Respiratoires (MP, BC), Cardiologie (BBP), Centre de Reference des Maladies 
      Neuromusculaires (PK), and EA3450-Nancy-Universite (MP, BC); Faculte de Medecine, 
      and Centre Hospitalier Universitaire de Nancy, Hopitaux de Brabois, Vandoeuvre, 
      France.
FAU - Poussel, Mathias
AU  - Poussel M
FAU - Pruna, Lelia
AU  - Pruna L
FAU - Deibener, Joelle
AU  - Deibener J
FAU - Chenuel, Bruno
AU  - Chenuel B
FAU - Brembilla-Perrot, Beatrice
AU  - Brembilla-Perrot B
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Cardiovascular Diseases/diagnosis/*epidemiology
MH  - Chi-Square Distribution
MH  - Cohort Studies
MH  - Comorbidity
MH  - Disease Progression
MH  - Eye Diseases/diagnosis/*epidemiology
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Logistic Models
MH  - Male
MH  - Metabolic Diseases/diagnosis/*epidemiology
MH  - Middle Aged
MH  - Multiple Organ Failure/*diagnosis/mortality
MH  - Multivariate Analysis
MH  - Muscle Weakness/physiopathology
MH  - Myotonic Dystrophy/diagnosis/epidemiology
MH  - Prevalence
MH  - Respiratory Insufficiency/diagnosis/epidemiology
MH  - Retrospective Studies
MH  - Risk Assessment
MH  - Severity of Illness Index
MH  - Statistics, Nonparametric
MH  - Survival Analysis
MH  - Young Adult
EDAT- 2011/06/23 06:00
MHDA- 2011/08/31 06:00
CRDT- 2011/06/23 06:00
PHST- 2011/06/23 06:00 [entrez]
PHST- 2011/06/23 06:00 [pubmed]
PHST- 2011/08/31 06:00 [medline]
AID - 00005792-201107000-00006 [pii]
AID - 10.1097/MD.0b013e318226046b [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2011 Jul;90(4):262-268. doi: 10.1097/MD.0b013e318226046b.