Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

In a Slovene Gypsy family of 19 subjects from. four generations three patie nts with clinical characteristics compatible with hereditary motor and sens ory neuropathy Lom (HMSNL), were found. They had severe distal and milder p roximal muscle atrophy and weakness with areflexia of myotatic jerks. Two h ad facial weakness at the time when already wheelchair bound All sensory mo dalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One p atient had polydactily on the hand. Nerve conduction studies were compatibl e with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17p1.2-12 or point mutations in the Protein zero. Peripheral myelin protein and Connexin32 genes. Simila r disorder that mapped to 8q25 was previously described in some Bulgarian a nd Italian Gypsy families. Members of our family may suffer from the same h ereditary disease and may carry the same ancestor mutation, which was in th e past spread in European Gypsy populations.