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Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy.

A family is described in which a mother and three of her five children showed myoclonic epilepsy. The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia. Although some of these disorders have been associated in previously reported families, the occurrence of all three disorders in members of one family seems to be unique. It is concluded that this family shows the manifestations of one, probably dominant, gene. The differences in age of onset and manifestations may be explained by the action of one or more subsidiary genes.

Adult↗

[Enhanced regeneration of terminal axons after hyperbaric oxygen therapy in a patient resembling progressive postpoliomyelitis muscular atrophy].

We found an electromyographical proof of reconstruction of the motor nerve terminals following hyperbaric oxygen therapy. A 38-year-old man who had been partially recovered for thirty four months from acute onset paraplegia following a gastrointestinal infection developed progressive muscular atrophy and weakness of the lower limbs, and was first admitted to our hospital. Cerebrospinal fluid examination was normal and nerve conduction studies showed small compound muscle action potentials without an evidence of segmental demyelination. There were ample fibrillation potentials on electromyography. Single fiber electromyography (SFEMG) showed increased fiber density, abnormal jitter and blockings without neurogenic jitter, which were similar to findings in post-poliomyelitis syndrome. He was treated by hyperbaric oxygen consisting of two hour exposures to pressures of two atmospheres breathing 100% oxygen. These exposures continued for a month daily, and thereafter once a week for one year. Clinical improvement of the weakness and a decrease in amount of fibrillation potentials occurred on and after a month after treatment. We found significant changes on SFEMG a year later. There were increased fiber densities and decreased mean values of consecutive differences. These changes indicate diminished degeneration and enhanced regeneration of the terminal axons. We think that hyperbaric oxygen has a beneficial effect on oxygen metabolism of remaining motoneurons which may not be able to maintain excessive metabolic demands of all their sprouting axons.

Adult↗

[A case of juvenile-type distal and segmental muscular atrophy of upper extremities (Hirayama disease) with the isolated cervical fusion at the C3-C4 levels].

The case, 29-year-old male, had suffered from muscular weakness and atrophy of the bilateral forearms and hands with tremor of the bilateral fingers for about 13 years. A neurological examination showed normal muscle-stretch reflexes and no sensory disturbances. A cervical spinogram revealed a fusion at the C3-C4 levels and mild spondylotic changes. We clinically diagnosed him as juvenile-type distal and segmental muscular atrophy of upper extremities (Hirayama disease) with the isolated congenital cervical fusion. Magnetic resonance imaging demonstrated an enlargement of the anterior epidural space from the C4-C5 levels to the Th 1-Th 2 levels. This abnormal epidural space showed relatively high signal intensity partially with low signal intensity on the T2 weighted spin-echo image and decreased in signal on the T1 weighted spin-echo image. And the dural sac was shifted backward and narrowed. And the soft discs was slightly protruded at the level of C4-5, C5-6 and C6-7. These findings suggest the over swelling and the delayed blood flow of the internal vertebral venous plexus. In this case, the degeneration of the cervical spine and soft disc derived from the congenital cervical fusion seems to have caused the internal vertebral venous plexus congestion and then have damaged the anterior horn cells.

Adult↗