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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Inclusion body myopathy 2


Other Names for this Disease

  • Distal myopathy with rimmed vacuoles
  • DMRV
  • GNE myopathy
  • Hereditary inclusion body myopathy
  • HIBM
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Symptoms

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What are the symptoms of inclusion body myopathy 2?

Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of  the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear.[1]
Last updated: 1/13/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Adult onset -
Adult onset -
Autosomal recessive inheritance -
Autosomal recessive inheritance -
Deposits immunoreactive to beta-amyloid protein -
Deposits immunoreactive to beta-amyloid protein -
Distal amyotrophy -
Distal amyotrophy -
Distal muscle weakness -
Elevated serum creatine phosphokinase -
Elevated serum creatine phosphokinase -
EMG: myopathic abnormalities -
EMG: myopathic abnormalities -
Gait disturbance -
Gait disturbance -
Limb-girdle muscle atrophy -
Limb-girdle muscle weakness -
Proximal muscle weakness -
Rimmed vacuoles -
Rimmed vacuoles -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.


Other Names for this Disease
  • Distal myopathy with rimmed vacuoles
  • DMRV
  • GNE myopathy
  • Hereditary inclusion body myopathy
  • HIBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.