Hereditary Inclusion Body Myopathy - Diagnosis

Diagnosis

The most useful information for accurate diagnosis is the symptoms and weakness pattern. If the quadriceps are spared but the hamstrings and iliopsoas are severely affected in a person between ages of 20 - 40, it is very likely HIBM will be at the top of the differential diagnosis. The doctor may order any or all of the following tests to ascertain if a patient has IBM2:

• Blood test for serum Creatine Kinase (CK or CPK);
• Nerve Conduction Study (NCS) / Electomyography (EMG);
• Muscle Biopsy;
• Magnetic Resonance Imaging (MRI) or Computer Tomography (CT) Scan to determine true sparing of quadriceps;
• Blood Test or Buccal swab for genetic testing;