Ketogenic diet in adult patients with mitochondrial myopathy.

Background: This study aimed to explore the feasibility, safety and efficacy of a Modified Atkins Diet (MAD) in patients with mitochondrial myopathy (MM).

Methods: Patients with genetically proven mitochondrial disorder and exercise intolerance or muscle weakness followed a twelve week MAD. Feasibility was measured by diet duration and ketone levels.

Improving Heckmatt muscle ultrasound grading scale through Rasch analysis.

The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of the scale in its current form.

An attenuated, adult case of AADC deficiency demonstrated by protein characterization.

A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.

272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.

Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel diagnostic tools include muscle imaging techniques such as MRI and ultrasound, and serological testing for cytosolic 5'-nucleotidase-1A antibodies. The 272nd ENMC workshop aimed to develop new diagnostic criteria, discuss clinical outcome measures and clinical trial readiness.