PMID- 33305167
OWN - NLM
STAT- MEDLINE
DCOM- 20210914
LR  - 20220418
IS  - 2532-1900 (Electronic)
IS  - 1128-2460 (Print)
IS  - 1128-2460 (Linking)
VI  - 39
IP  - 3
DP  - 2020 Sep
TI  - Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years 
      experience from a single center.
PG  - 109-120
LID - 10.36185/2532-1900-015 [doi]
AB  - The aim of the study was to identify possible predictors of neurological 
      worsening and need of non-invasive ventilation (NIV) in individuals affected by 
      myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular 
      dystrophy. METHODS: A retrospective observational cohort study was undertaken. 
      Thirty-three patients with genetic diagnosis of DM1 were followed at our 
      Neuromuscular unit in Modena. Abnormal trinucleotide repeat (CTG) expansion of 
      dystrophy protein kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite 
      for inclusion. The number of CTG repeats was determined. All the participants 
      were older than 14 at the time of enrolment, therefore they could be included 
      into the juvenile or adult form of the disease. Participants were neurologically 
      evaluated every 6-8 months up to 18 years. Neurological impairment was assessed 
      by Muscular Impairment Rating (MIRS), Medical Research Council (MRC), and 
      modified Rankin (mRS) scales. The independent variables considered for prognosis 
      were age at first evaluation, duration of the disease, CTG repeat number, gender, 
      and presence of cardiac and vascular morbidities.Male patients were 51.5% and 
      female patients 48.5%. Sixteen patients were younger than the mean age of 30.1 
      years, while the remaining 17 were up to 65. Twelve subjects (36.4%) underwent 
      NIV before the end of follow-up. Muscle force and disability scores showed 
      statistically significant deterioration (p < 0.001) during follow-up. The 
      worsening was significantly higher among patients carrying higher number of CTG 
      repeats and of younger age. The presence of cardio-vascular involvement has 
      significant impact on neurological and respiratory progression.Neurological 
      worsening is predicted by CTG expansion size, young age and presence of 
      cardio-vascular morbidities.
CI  - (c)2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
FAU - Mazzoli, Marco
AU  - Mazzoli M
AD  - Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of 
      Modena, Italy.
FAU - Ariatti, Alessandra
AU  - Ariatti A
AD  - Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of 
      Modena, Italy.
FAU - Garuti, Gian Carlo
AU  - Garuti GC
AD  - Respiratory Unit, Mirandola Hospital, Italy.
FAU - Agnoletto, Virginia
AU  - Agnoletto V
AD  - Cardiology Unit, University Hospitals of Modena, Italy.
FAU - Genovese, Maurilio
AU  - Genovese M
AD  - Neuroradiology Unit, University Hospitals of Modena, Italy.
FAU - Gozzi, Manuela
AU  - Gozzi M
AD  - Radiology Unit, University Hospitals of Modena, Italy.
FAU - Kaleci, Shaniko
AU  - Kaleci S
AD  - Department of Surgical, Medical, Dental and Morphological Science with Interest 
      in Transplant, Oncological and Regenerative Medicine, University of Modena and 
      Reggio Emilia, Italy.
FAU - Marchioni, Alessandro
AU  - Marchioni A
AD  - Respiratory Diseases Unit, Department of Medical and Surgical Sciences, 
      University Hospitals of Modena, Italy.
FAU - Malagoli, Marcella
AU  - Malagoli M
AD  - Neuroradiology Unit, University Hospitals of Modena, Italy.
FAU - Galassi, Giuliana
AU  - Galassi G
AD  - Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of 
      Modena, Italy.
LA  - eng
PT  - Journal Article
PT  - Observational Study
DEP - 20200901
PL  - Italy
TA  - Acta Myol
JT  - Acta myologica : myopathies and cardiomyopathies : official journal of the 
      Mediterranean Society of Myology
JID - 9811169
RN  - 0 (DMPK protein, human)
RN  - EC 2.7.11.1 (Myotonin-Protein Kinase)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Cardiovascular Diseases/epidemiology
MH  - Diagnostic Techniques, Neurological
MH  - Disability Evaluation
MH  - Disease Progression
MH  - Female
MH  - Humans
MH  - Italy/epidemiology
MH  - Male
MH  - *Muscular Dystrophies/diagnosis/etiology
MH  - *Myotonic Dystrophy/epidemiology/genetics/physiopathology
MH  - Myotonin-Protein Kinase/genetics
MH  - *Nervous System Diseases/etiology/physiopathology/therapy
MH  - *Neuromuscular Monitoring/methods/statistics & numerical data
MH  - Noninvasive Ventilation/statistics & numerical data
MH  - Prognosis
MH  - Retrospective Studies
MH  - Trinucleotide Repeat Expansion/*genetics
PMC - PMC7711325
OTO - NOTNLM
OT  - CTG trinucleotide repeat
OT  - muscular impairment rating scale
OT  - myotonic dystrophy type I
EDAT- 2020/12/12 06:00
MHDA- 2021/09/15 06:00
PMCR- 2020/09/01
CRDT- 2020/12/11 06:05
PHST- 2020/05/11 00:00 [received]
PHST- 2020/09/08 00:00 [accepted]
PHST- 2020/12/11 06:05 [entrez]
PHST- 2020/12/12 06:00 [pubmed]
PHST- 2021/09/15 06:00 [medline]
PHST- 2020/09/01 00:00 [pmc-release]
AID - 10.36185/2532-1900-015 [doi]
PST - epublish
SO  - Acta Myol. 2020 Sep 1;39(3):109-120. doi: 10.36185/2532-1900-015. eCollection 
      2020 Sep.