Question: What is (are) Inclusion body myopathy 2 ?
Answer: Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.
Source: GARD

Question: What are the symptoms of Inclusion body myopathy 2 ?
Answer: What are the signs and 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. 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 - Autosomal recessive inheritance - Deposits immunoreactive to beta-amyloid protein - Distal amyotrophy - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Gait disturbance - Limb-girdle muscle atrophy - Limb-girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - 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.
Source: GARD

Question: What causes Inclusion body myopathy 2 ?
Answer: What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2. Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition.
Source: GARD

Question: Is Inclusion body myopathy 2 inherited ?
Answer: How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GARD

Question: What are the treatments for Inclusion body myopathy 2 ?
Answer: How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[5666] Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here.
Source: GARD