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Hereditary Inclusion Body Myopathy (HIBM)

GNE Myopathy (GNEM)

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Get a complete genetic evaluation by Dr. Gidon Akler, a genetics/genomics expert and pioneer in the research and testing of Sephardic/Mizrachi Jewish Genetic Diseases. After obtaining a full medical history and family history, Dr. Akler will determine if you or your family is at high risk for HIBM (a.k.a GNEM) or other genetic diseases and will order the appropriate testing for you. After testing is complete, you will have a post-test genetic counseling session with Dr. Akler to explain your results and to give you further recommendations. You will also receive a full report to include in your medical record and for your primary doctor or other specialists to use to personalize your health management.

What is Hereditary Inclusion Body Myopathy (HIBM)?

HIBM is a muscle wasting disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time, which can be very debilitating. 

Some other names for HIBM include:

  • GNEM or GNE Myopathy

  • Inclusion body myopathy 2 (IBM2)

  • Distal myopathy with rimmed vacuoles (DMRV)

  • Inclusion body myopathy, autosomal recessive

  • Inclusion body myopathy, quadriceps-sparing (QSM)

  • Nonaka myopathy

  • Rimmed vacuole myopathy

What are some of the signs and symtpoms of HIBM or GNEM?

  • Weakness of a muscle in the lower leg called the tibialis anterior (muscle helps control up-and-down movement of the foot).

  • Progression of the disease leads to weakness in muscles of the upper legs, hips, shoulders, and hands.

  • Weakness in leg muscles makes walking increasingly difficult, and most people require wheelchair assistance within 20 years after signs and symptoms appear.

  • HIBM does not affect the quadriceps (muscles at the front of the thigh), the eye or heart muscles, and does not cause neurological problems.

What causes HIBM?

The mutations responsible for HIBM reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. As a result, less of this simple sugar is available to attach to cell surface molecules causing the signs and symptoms of HIBM. 

What is the frequency of HIBM?

HIBM has been found in several ethnic groups worldwide. It has most frequently been found in the Iranian Jewish population with a carrier rate of the mutation of 1 in 10 to 1 in 15 and prevalence of the disease of about  1 in 1,500 people in this population. It has also been found to be prevalent in the Japanese population with more than 15 reported cases thus far. Many people affected by HIBM remain undiagnosed.

For more questions about HIBM email us at or book an appointment by selecting the "HIBM Evaluation and Testing" on our booking page.

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