HIBM is a group of genetic neuromuscular disorders, characterized by muscle weakness and wasting disorder, developing in young adults. HIBM comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individual patients, but all share similar structural features in the muscles.
Dr. Zohar Argov, a world known Neurologist of Hadassah Medical Center in Jerusalem defined HIBM on 1984. Dr. Stella Rosenbaum of Hadassah identified the mutation in GNE gene, which causes HIBM.
One form of HIBM, also known as IBM2, appears amongst people of Iranian-Jewish descent. HIBM has also been diagnosed in other minorities, including people of Asian (Japanese and others), European, and South American origin, as well as Muslim patients in the Middle Eastern origin. The different forms have different mutations and inheritance patterns.
HIBM causes progressive muscle weakness and eventually their waste; starting around the age of 20-30 years, it will progress to marked disability within 15 years or more. The weakness' severity varies – some patients show weakness first in the legs, in others, the hands weaken more rapidly. The sickness is progressive, but does not seem to affect the brain, internal organs or sensation. The quadriceps usually remains strong until the late stages of disease. HIBM patients express low levels of Sialic acid in muscles' protein.
Some early signs of HIBMs include difficulty walking on heels, difficulty running, weak index finger and frequent loss of balance.
Patients and family members established HIBM Israel foundation. Its primary aim is to implement studies findings for the benefit of HIBM patients. There are different studies on going in several laboratories and the foundation will help funding the patients' studies and eventual treatments once available.
Patients with HIBM are currently taking Sialic acid and passing Embryonic Stem Cells transplants on their own, resulting with a limited improvement.