Rinsho Shinkeigaku (Clinical Neurology)

The 48th Annual Meeting of the Japanese Society of Neurology

The whole story of discovery of Fukuyama congenital muscular dystrophy

Yukio Fukuyama, M.D., Ph.D.

Emeritus Professor, Tokyo Women's Medical University

Fukuyama congenital muscular dystrophy (FCMD) is a unique autosomal recessively inherited condition which is characterized by a combination of systemic progressive muscular dystrophy (PMD), severe cerebro-cerebellar cortical malformation in association with/without retinal derrangement of very early onset. FCMD is the second most prevalent type of PMD in Japan, while it is extremely rare outside Japan.
Historically, the first half of the 20th century was a dark age in terms of CMD. The entity of CMD was practically absent in the international classification of PMD until 1986, when MIM first enlisted FCMD as a disease entity.
In the midst of this dark age, that is, in 1960, we first reported a series of 15 cases of CMD and advocated that this will represent a completely new disease entity. To reach a correct diagnosis, a key role was played by keen clinical observation, application of newly explored diagnostic procedures, including muscle biopsy, needle electromyography and determination of serum creatine kinase activities. Another important factor was an exhaustive review of pertinent literature.
Through exercising the above approaches in combination, we could reach to our conviction that we are dealing with a entirely new type of CMD.

(CLINICA NEUROL, 47: 739－742, 2007)
key words: discovery of new disease, congenital muscular dystrophy, Fukuyama muscular dystrophy, Fukutinopathy, Lissencephaly type II

(Received: 16-May-07)