Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review.

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder often considered a model of accelerated aging due to the early appearance of certain age-related clinical manifestations and cellular and molecular aging markers. Frailty, a state of vulnerability related to aging, has been recently studied in neurological conditions but has received considerably less attention in neuromuscular disorders. This narrative review aims to describe 1) the common characteristics between Fried's frailty phenotype criteria (muscular weakness, slow gait speed, weight loss, exhaustion/fatigue, and low physical activity) and DM1, and 2) the psychological and social factors potentially contributing to frailty in DM1.

CNS involvement in myotonic dystrophy type 1: does sex play a role?

Introduction: Myotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disorder affecting the central nervous system (CNS). Although sex differences have been explored in other neuromuscular disorders, research on this topic in DM1 remains limited. The present study aims to analyze sex differences (both the patient's and disease-transmitting parent's sex) with a focus on CNS outcomes.

Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality.

Central nervous system dysfunction is characteristic of patients with myotonic dystrophy type 1 (DM1). Although no consensus exists regarding the exact cognitive profile of these patients, executive dysfunction has been suggested to play a role. Due to the impact of executive functions on daily performance, this study aimed to describe executive functioning in an ecological manner and to analyze its impact - and that of other clinical variables - on the functional performance of DM1 patients.

Visuoconstructional impairment in DM1: exploring underlying cognitive processes through the Rey complex figure.

Introduction: Among the cognitive difficulties shown by myotonic dystrophy type 1 (DM1) patients, visuoconstructional impairment - specifically measured with the Rey-Osterrieth Complex Figure Test (RCFT) - is particularly notable. This study aimed to analyze the performance of DM1 patients and healthy controls (HC) in the RCFT, using different correction systems in order to explore the cognitive processes underlying the poor performance and its associations with other signs and symptoms.

Methods: Data from 66 DM1 patients and 68 HC were included in this study.

267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders.

This workshop aimed to develop recommendations for psychological interventions to support people living with slowly progressive neuromuscular disorders (NMD). The workshop comprised clinicians, researchers, people living with NMD and their relatives. First, participants considered the key psychological challenges presented by NMD and the impact of NMD on relationships and mental health.

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study.

Background And Purpose: Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases. Nevertheless, subtle signs and/or symptoms related to other systems, such as the central nervous system (CNS), may emerge and progress gradually.

A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1.

Currently, no rapid and specific instrument is available to briefly estimate intelligence in patients with myotonic dystrophy type 1 (DM1), a multisystemic disease that involves the CNS and is associated with cognitive deficits and low intellectual functioning. This study aimed to develop a DM1-specific and valid short-form of the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) to estimate intellectual functioning in this population. Thirty non-congenital DM1 patients (10 female; mean age=46.

White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study.

Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and altered tract integrity distributed in a widespread manner. However, the precise temporal and spatial progression of the changes are yet undetermined.

A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age.

Very preterm children (gestational age < 32 weeks) frequently show neurodevelopmental difficulties (Inattention/dysexecutiveness) throughout their life-stages. A scarcity of resources, along with this population's cognitive vulnerability, makes the neuropsychological evaluation of these children both complicated and time-consuming. This study aimed to develop a specific and valid Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) short-form to estimate intellectual functioning in this population.