Contribution to our knowledge of Thévenard's ulcero-mutilating acropathy

Four patients presenting ulcerative mutilating acropathy (UMA) (Thévenard's disease or Denny-Brown's hereditary sensory neuropathy) are reported: in 3 cases (2 of them are siblings) the neuropathy was familiar with a dominant transmission, the fourth case was sporadic. A fifth patient, member of one of the families with UMA, had a sensory motor neuropathy (type I of Charcot Marie Tooth disease) without acropathies. Following examinations have been performed: EMG and motor and sensory nerve conduction velocities in 4 cases, investigation of content of free aminoacids in serum and cerebrospinal fluid in 3 cases, kinetic arteriographies of the legs in 1 case, histology of sural nerve in 1 case. All patients had a mixed motor and sensory impairment. Neurophysiological tests showed in some cases a neural damage, in others a neuronal compromission, this suggesting different diseases. The presence of kiphoscoliosis, oligophrenia and loss of hearing, in some siblings of one family, is ascribed to an overlap with Friedreich disease. Links between Thévenard, Charcot Marie Tooth and Friedreich diseases are discussed.