Myopathies – PFMG 2025

Carried by: FILNEMUS

References:

Clinician(s): Tanya STOKOJKOVIC

Biologist(s): Mireille COSSEE

Presentation

The indication concerns undiagnosed myopathies (children or adults) after exclusion of the following dosages or gene analysis, based on the clinical context:

1) acid maltase deficiency,

2) myasthenia gravis,

3) immune-mediated necrotizing myopathies (anti-SRP, HMG-CoA reductase, etc.)

Depending on the clinical context

4) PROMM, DM1, DM2, and FSHD1

5) and dedicated panels (e.g. dystrophy: limb-girdle dystrophy panel, including Duchenne Becker, etc.)

Filnemus network website (in french)

Criteria before considering a discussion in MDM-FMG

Child over 1 year of age
Propositus with a short-term parenting project
Woman who is a first-degree relative of the propositus

Phenotype

Typical clinical presentation with negative gene panel
Clinical presentation deemed atypical, not immediately assignable to one of the panels in the network
Severe clinical presentation requiring the implementation of urgent specific care: cardiac and/or respiratory impairment (ventilatory support) and/or non-ambulatory, progressive impairment.

Myopathy: checklist

Specify the phenotypic context (congenital myopathy, limb-girdle muscular dystrophy, congenital myasthenia, etc.)
Verification of tests performed (EMG, biology, muscle and brain MRI, muscle biopsy, etc.)
Available tissue: muscle, skin
Check genetic analyses already performed
Check available family samples (propositus and relatives: parents and/or siblings)

If no gene is identified after this step, whether or not to perform STHD is discussed in the multidisciplinary team meeting and validated by the multidisciplinary team.