Hereditary inclusion body myopathy

Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles.

The term hereditary inclusion body myopathy (HIBM) was historically used to describe multiple distinct genetic conditions and is now considered antiquated; specific gene names are now used in disease nomenclature, such as GNE myopathy and VCP-associated multisystem proteinopathy.

HIBMs are a group of muscle wasting disorders that are uncommon in the general world population. One autosomal recessive form of HIBM is known as IBM2 or GNE myopathy, which is a common genetic disorder amongst people of Iranian Jewish descent. IBM2 has also been identified in other minorities throughout the world, including those of Asian, European, and South American, and Middle Eastern descent. In Japan and other East Asian countries, this disorder is known as distal myopathy with rimmed vacuoles (DMRV).

One autosomal dominant form of HIBM is known as VCP-associated multisystem proteinopathy, which in addition to affecting muscles, can also affect bone and/or the central nervous systems.