Inclusion body myopathy 3

Alternate names

IBM3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; Inclusion body myopathy autosomal dominant; Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia; Hereditary inclusion body myopathy type 3; HIBM3

Definition

Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

Epidemiology

Nineteen affected individuals have been described from one large family.

Cause

The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is in autosomal dominant manner.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 5%-29% of people have these symptoms

• Distal muscle weakness(Weakness of outermost muscles)
• Ptosis(Drooping upper eyelid)
• Scapular winging(Winged shoulder blade)
• Scoliosis
• Waddling gait('Waddling' gait)

Treatment

• Treatment is palliative, not curative.
• Treatment options for lower limb weakness such as foot drop can be through the use of Ankle Foot Orthoses (AFOs) which can be designed or selected by an Orthotist based upon clinical need of the individual.
• Sometimes tuning of rigid AFOs can enhance knee stability.

NIH genetic and rare disease info

• NIH info on Inclusion body myopathy 3

Inclusion body myopathy 3 is a rare disease.