Source:http://linkedlifedata.com/resource/umls/id/C0393559
JABL: Spastic paraparesis with distal muscle wasting. The syndrome has its onset in childhood with dysarthria and muscle wasting (involving mainly the thenar, hypothenar, and dorsal interosseous muscles), followed by spasticity and contractures of the lower limbs (thus making it difficult if not impossible to walk), drooling, and mild cerebellar signs. Mental retardation was reported in cases of nonprogressive spastic paresis associated with short stature and behavior disorders. All early cases were observed in Amish families but later reports came from a non-Amish sibship. The syndrome was named for the surname of the patients in an Amish group in Ohio, in whom the condition was first observed.