Fingerprint body myopathy

Monique M Ryan MD (Dr. Ryan of Royal Children's Hospital and Murdoch Childrens Research Institute has no relevant financial relationships to disclose.)
Salvatore DiMauro MD, editor. (Dr. DiMauro, Director Emeritus of H Houston Merritt Clinical Center for the Study of Muscular Dystrophy and Related Diseases at Columbia University, has no relevant financial relationships to disclose.)
Originally released September 19, 1995; last updated February 15, 2017; expires February 15, 2020

This article includes discussion of fingerprint body myopathy and congenital fingerprint body myopathy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

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 of this rare disease and highlights specific case studies.

Key points

 

• Fingerprint body is a rare congenital myopathy.

 

• Only 5 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 genetic basis of fingerprint myopathy is not yet known.

 

• 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 to be described was in a 5-year-old girl with weakness (Engel et al 1972). Four additional children have been described, including 2 half-brothers (Fardeau et al 1976) and twin boys (Curless et al 1978). A similar abnormality was discovered in muscle obtained from a 54-year-old woman who had 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, but 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 5 children with congenital weakness (Engel et al 1972; Fardeau et al 1976; Curless et al 1978), 3 had type 1 fiber predominance, 1 was normal, and the histology was not described in the fifth. 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).

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 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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