Myologists from the Paris region, including an expert from the Institute, report the case of a patient with an ultra-rare myopathy:
- the clinical picture combined a predominantly distal motor deficit in the upper limbs with acute respiratory failure.
- In addition to CPK levels more than ten times higher than normal, the forced vital capacity at baseline was greatly reduced, to around 20% of the theoretical value.
- histology was consistent with myofibrillar myopathy,
- and genetic testing performed using NGS and confirmed by qPCR revealed the presence of a pathogenic homozygous variant in the DNAJB4 gene in the form of a small deletion.
This case is phenotypically similar to other cases reported in the literature.
