Abstract
A fourteen-year-old boy suffered from distal dominant neurogenic muscle atrophy since his eight years old of age. In addition to the rarity of distal dominant chronic spinal muscle atrophy in this young age period, a variety of associated symptoms were observed such as muscle cramps, localized muscle bulbs (“boule musculaire”), slight sensory disturbances, marked growth failure and emaciation, intractable diarrhea, pig mentation of skin and gingiva, delayed maturation of secondary sexual characters, and mental retardation.
Muscle cramps and bulbs are rarely described in a very limited number of cases with progressive muscular dystrophy and spinal muscle atrophy.
The literatures of the description of cases showing these and other related phenomena such as myotonia, muscle contracture, stiffness, or spasms was extensively reviewed, and diagnostic and pathogenetic implications of these signs were discussed.
