Hereditary disease/PGS/diagnosis

From WikiLectures

The group of autosomal-dominant spinocerebellar ataxias (SCAs) begins in adulthood with a slowly progressive cerebellar syndrome, in some cases accompanied by polyneuropathy, extrapyramidal syndrome or cognitive deficit. The most common units can be proven by genetic testing, and imaging methods demonstrate cerebellar atrophy. Therapy is only rehabilitation, genetic counselling is important. In the differential diagnosis, it is necessary to distinguish the cerebellar type of multisystem atrophy, which is possible by proof of autonomic impairment and MRI findings. Sometimes, however, only the next course decides.

Autosomal recessive Friedreich's ataxia is the most common hereditary ataxia. In most cases, the difficulties begin in childhood, but they can also begin in adulthood. The clinical picture includes cerebellar syndrome, posterior cord syndrome, pes cavus, kyphoscoliosis of the spine, and pyramidal irritation phenomena on the lower limb. Wilson's disease must be ruled out for any progressive cerebellar involvement with onset under the age of 45, especially if it is accompanied by extrapyramidal symptoms.