Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1.

Introduction/aims: Hypogammaglobulinemia is a common yet under-recognized feature of myotonic dystrophy type 1 (DM1). The aims of our study were to determine the frequency of immunoglobulin G (IgG) deficiency in our cohort, to examine the association between immunoglobulin levels and cytosine-thymine-guanine (CTG) repeat length in the DMPK gene, and to assess whether IgG levels are associated with an increased risk of infection in DM1 patients.

Methods: We conducted a single-center, retrospective cross-sectional study of 65 adult patients with DM1 who presented to the Neuromuscular Clinic at Concord Repatriation General Hospital, Sydney, Australia, between January 2002 and January 2022.

Neuromuscular junction disorders: mimics and chameleons.

Neuromuscular junction (NMJ) disorders represent a heterogenous group of acquired and congenital disorders that present in variable and distinctive ways. The diagnosis is typically reached through a combination of clinical, serological, pharmacological and electrophysiological evaluation. While the diagnosis can be fairly straightforward in some cases, the overlap with other neurological disorders can make diagnosis challenging, particularly in pure ocular presentations and in seronegative patients.

Adaptation and validation of the Greek version of the Communication and Language Assessment questionnaire for persons with Multiple Sclerosis (CLAMS).

Objective: The aim of the present study was to validate the Communication and Language Assessment questionnaire for persons with Multiple Sclerosis (CLAMS) into the Greek language.

Method: 106 Persons with Multiple Sclerosis (PwMS) and 51 healthy controls (HCs) participated in this study. We evaluated patients' cognitive abilities with the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS).

Adaptation and validation of the Greek version of the Speech Pathology-Specific Questionnaire for Persons with Multiple Sclerosis (SMS).

Purpose: The aim of the present study was to adapt and validate the Speech Pathology-Specific Questionnaire for Persons with Multiple Sclerosis (SMS) into the Greek language.

Method: The study sample consisted of 124 people with multiple sclerosis (PwMS) and 50 healthy controls (HCs). All PwMS underwent cognitive assessment using the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS).