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GNE-Related Myopathy.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Mar 26 [updated 2013 Mar 7].

Author information

1
Neuromuscular Research Department, Montreal Neurological Institute, Montreal, Quebec
2
Department of Neurology, Neuromuscular Center, University Hospital Basel, Basel, Switzerland

Excerpt

CLINICAL CHARACTERISTICS:

GNE-related myopathy, also known as inclusion body myopathy 2, is characterized by slowly progressive distal muscle weakness that begins in the late teens to early adult years with gait disturbance and foot drop secondary to anterior tibialis muscle weakness. Weakness eventually includes the hand and thigh muscles but commonly spares the quadriceps muscles, even in advanced disease. Affected individuals are usually wheelchair bound about 20 years after onset. If quadriceps sparing is incomplete, loss of ambulation tends to occur earlier.

DIAGNOSIS/TESTING:

The diagnosis of GNE-related myopathy is based on clinical and histopathologic criteria. Because simplex cases (i.e. a single occurrence in a family) are common, the presence of affected relatives is not obligatory for the diagnosis. Muscle histopathology typically shows rimmed vacuoles and characteristic filamentous inclusions. GNE, which encodes the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, is the only gene in which pathogenic variants are known to cause GNE-related myopathy.

MANAGEMENT:

Treatment of manifestations: Treatment is symptomatic. Individuals are often evaluated and managed by a multidisciplinary team including neurologists, geneticists and physiatrists, as well as physical and occupational therapists. All affected individuals should consult their physician before beginning an exercise program. Surveillance: Annual routine follow up with the multidisciplinary team, including screening for signs and symptoms of cardiac and respiratory dysfunction. Agents/circumstances to avoid: Medications/drugs with potential myotoxicity should be used with caution.

GENETIC COUNSELING:

GNE-related myopathy is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for a pregnancy at increased risk are possible if the pathogenic variants in the family are known.

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