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

We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s) representative of the large research data pool at onset by performing factor analyses, then assigned each patient to the cluster for which they had the highest computed total factor score.

Symptomatic Treatment of Myelopathy.

Objective: This article discusses the effects of myelopathy on multiple organ systems and reviews the treatment and management of some of these effects.

Latest Developments: Recent advances in functional electrical stimulation, epidural spinal cord stimulation, robotics, and surgical techniques such as nerve transfer show promise in improving function in patients with myelopathy. Ongoing research in stem cell therapy and neurotherapeutic drugs may provide further therapeutic avenues in the future.

Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2.

Background And Objectives: The existence of clinical anticipation, congenital form, and parent-of-origin effect in myotonic dystrophy type 2 (DM2) remains uncertain. Here, we aimed at investigating whether there is a parent-of-origin effect on the age at the first DM2-related clinical manifestation.

Methods: We identified patients with genetically confirmed DM2 with known parental inheritance from (1) the electronic medical records of our institutions and (2) a systematic review of the literature following the PRISMA 2020 guidelines and recorded their age at and type of first disease-related symptom.

Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.

Introduction/aims: Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer-related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 vs a non-DM muscular dystrophy cohort.

A Case Report of Leptomeningeal Carcinomatosis Secondary to Recurrent Merkel Cell Carcinoma after Avelumab.

Introduction: Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine cancer with a high mortality rate of 33% to 46%. Merkel cell is a type of epidermis cell receptor responsible for contact sensitivity and is known to have neuroendocrine properties. Treatment of Merkel cell carcinoma with avelumab has been prominsing, but its rarity and poor prognosis necessitates close follow up.