Some unusual findings in a family with Friedreich's ataxia.

Friedreich's ataxia, a hereditary disorder of the nervous system, is characterized by the onset of ataxia of gait, weakness and clumsiness of the limbs, and dysarthria of speech in young patients of either sex. Loss of tendon reflexes, usually combined with extensor plantar responses and impairment of vibration and joint sense, is often found. Nystagmus is common. Complications include mental symptoms, kyphoscoliosis, pes cavus and claw hand. Cardiac complications often terminate the disease. These findings are associated with progressive degeneration of the spinocerebellar and corticospinal tracts, the posterior column and Clarke's column. A family, in which a father and six of his children are believed to suffer from Friedreich's ataxia, is reported because of several unusual features. Notably, optic atrophy and nerve deafness are the most consistent findings, and upper and lower motor neurone disturbances appear more conspicuous than those of the spino-cerebellar system. The rate of progress of the disease varied considerably: one child died within two and a half months of the onset of symptoms, whilst others with muscle wasting appeared to remit during the period of observation. Before the diagnosis was finally established in the members of this family many conditions were considered. These included tuberculous meningitis, Arnold-Chiari malformation, posterior fossa lesion, spinal tumour, progressive muscular atrophy, peripheral neuritis due to avitaminosis, diphtheria, lead poisoning, toxic myelitis, and syphilis of the nervous system and meninges.