Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect.

Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient-reported outcome measures.

Background And Purpose: Because Becker muscular dystrophy (BMD) is a heterogeneous disease and only few studies have evaluated adult patients, it is currently still unclear which outcome measures should be used in future clinical trials.

Methods: Muscle magnetic resonance imaging, patient-reported outcome measures and a wide range of clinical outcome measures, including motor function, muscle strength and timed-function tests, were evaluated in 21 adults with BMD at baseline and at 9 and 18 months of follow-up.

Results: Proton density fat fraction increased significantly in 10/17 thigh muscles after 9 months, and in all thigh and lower leg muscles after 18 months.

Guillain-BarrÉ syndrome subtype diagnosis: A prospective multicentric European study.

Introduction: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically.

Methods: We prospectively included 58 GBS patients. Electrodiagnostic testing (EDX) was performed at means of 5 and 33 days after disease onset.

Megaesophagus associated with Myasthenia Gravis: a rare condition in humans.

We present the case of a 79 year-old patient with megaesophagus and aphagia, who required percutaneous endoscopic gastrostomy (PEG) feeding. Megaesophagus was considered the sole cause of aphagia by the referring secondary hospital. Solid state sensor videofluoromanometry (VFM) showed a substantial decrease in manometric values within the hypopharynx along with good relaxation of the upper-esophageal sphincter (UES).

Effects of low frequency filtering on distal compound muscle action potential duration for diagnosis of CIDP: A Japanese-European multicenter prospective study.

Objective: The duration of the distal compound muscle action potential (DCMAP) is a useful index to detect demyelination in the distal nerve segments. However in published electrodiagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), the cut-off values of DCMAP duration are defined using an EMG low frequency filter of only 20 Hz. We aimed to provide widely-available reference data using several low cut filters.