THE X-CHROMOSOMAL RECESSIVE SPINOBULBAR MUSCULAR-ATROPHY (TYPE KENNEDY) - DESCRIPTION OF A FAMILY, CLINICAL-FEATURES, MOLECULAR-GENETICS, DIFFERENTIAL-DIAGNOSIS AND THERAPY

The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atro phy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usua lly between 20 and 40. Presenting symptoms are proximal flaccid weakne ss,fasciculations, cramps or tremor. Disease progression is usually sl ow and live expectancy is normal. It is important to distinguish the K ennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular at rophy, muscular dystrophies and other types of motor neuron disease. K ennedy disease is caused by an expanded trinucleotide repeat in the an drogen receptor gene. Genetic analysis allows a precise diagnosis on a n individual basis and reliable genetic counselling. An effective medi cal treatment does not yet exist.