Fingerprint body myopathy
| Classification according to ICD-10 | |
|---|---|
| G71.2 | Congenital myopathies with specific morphological abnormalities of the muscle fibers [structural myopathies ] |
| ICD-10 online (WHO version 2019) | |
As Fingerprint body myopathy is a very rare muscle disease from the group of congenital myopathies referred, which was first described in 1972.
clinic
Clinically, a symmetrical weakness of the skeletal muscles that is emphasized proximally is the most prominent. Affected infants are hypotonic ( floppy infant ) at birth . The course is benign and at most slowly progressing.
Histology and genetics
Histologically , ovoid inclusions in the muscle fibers are found in the muscle biopsy , which have a diameter of 1 to 10 µm and which are colored red in the hematoxylin-eosin staining and green in the modified Gömöri trichrome staining. In electron microscopy, these appear as bodies reminiscent of fingerprints, the eponymous fingerprint bodies . Fingerprint bodies are not specific, but have also been described for central core myopathy , among other things . Fingerprint body myopathy usually occurs sporadically. A familial occurrence has been described in individual cases. The underlying genetic defect is unknown.
Individual evidence
- ↑ Engel et al .: Fingerprint body myopathy, a newly recognized congenital muscle disease. Mayo Clin Proc 1972; 47 (6): 377-88. PMID 4339422
- ↑ Fardeau et al .: Familial fingerprint body myopathy. Arch Neurol . 1976; 33 (10): 724-5. PMID 184767
