Fingerprint body myopathy

Monique M Ryan MD (

Dr. Ryan of Royal Children’s Hospital and Murdoch Childrens Research Institute received honorariums from Biogen as a consultant, guest speaker, and advisory committee member and honorariums from Novartis and Roche as an advisory committee member.

)
Emma Ciafaloni MD FAAN, editor. (

Dr. Ciafaloni of the University of Rochester received personal compensation for serving on advisory boards and/or as a consultant for Avexis, Biogen, Pfizer, PTC Therapeutics, Sarepta, Ra pharma, Wave, and Strongbridge Biopharma; and for serving on a speaker’s bureau for Biogen. Dr Ciafaloni also received research and/or grant support from Orphazyme, PTC Therapeutics, Santhera, and Sarepta.

)
Originally released September 19, 1995; last updated January 24, 2021; expires January 24, 2022

Overview

Fingerprint body myopathy is a rare muscle disease characterized by weakness and reduced muscle mass and by subsarcolemmal, non-membrane-bound inclusions that are frequently adjacent to mitochondria. The author addresses major concerns with this rare condition and highlights specific case studies.

Key points

 

• Fingerprint body is a rare congenital myopathy.

 

• Only 6 cases of fingerprint myopathy have been described to date.

 

• Fingerprint myopathy is defined by subsarcolemmal inclusions on muscle biopsy; the inclusions have a characteristic lamellar pattern on electron microscopy.

 

• The cause of fingerprint myopathy is unknown, although one case was felt to be caused by mutations in a gene causative of nemaline myopathy (LMOD3).

 

• An increasing number of protein aggregate myopathies are now recognized. The multitude of diverse proteins aggregating within muscle fibers suggests a common pathway of impaired extralysosomal degradation of proteins or defects in sarcomeric development and maturation.

Historical note and terminology

The first case of this ultrastructural myopathy described was in a 5-year-old girl with weakness (Engel et al 1972). Five additional cases have since been reported, including 2 half-brothers (Fardeau et al 1976), twin boys (Curless et al 1978), and a boy first biopsied at 11 years of age. A similar abnormality was discovered in muscle obtained from a 54-year-old woman with static muscle weakness from early childhood (Gordon et al 1974) and in 2 adult siblings with proximal weakness from early childhood (Stojkovic et al 2001).

Light microscopy reveals either type 1 predominance or normal pattern. Inclusion bodies are generally not apparent histologically. When they are seen on light microscopy, fingerprint bodies may appear as pale or eosinophilic inclusions on the Gomori trichrome stain (Stojkovic et al 2001). Of the 6 children with congenital weakness (Engel et al 1972; Fardeau et al 1976; Curless et al 1978; Marguet et al 2020), 4 had type 1 fiber predominance, 1 had normal fiber typing, and muscle histology was not described in the sixth. Using their prior identification of ultrastructural fiber typing (Payne et al 1975), Payne and Curless demonstrated type 1 specificity for the fingerprint inclusions (Payne and Curless 1977).

Fingerprint bodies are occasionally seen in other neurologic conditions. Identical ultrastructural findings in patients without muscular signs or symptoms were noted in 3 adult patients with myotonic dystrophy (Tome 1973) and in a patient with Marfan syndrome (Jadro-Santel et al 1980). Sengel and Stoebner found fingerprint bodies in the muscle of 5 adults; 2 had emphysema and the others had a progressive myopathy, cardiomyopathy, myotonic dystrophy, or progressive ataxia. These authors also reported fingerprint bodies in a child with a central nervous system degenerative disorder (Sengel and Stoebner 1974). Fingerprint bodies were also described in an adult with oculopharyngeal muscular dystrophy. There was no limb extremity weakness, and the biopsy was obtained from a deltoid muscle (Julien et al 1974).

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