DIAGNOSIS PARTICULARITIES IN NEUROMUSCULAR GENETIC PATHOLOGY

ABSTRACT: 

By defining the human genome, a framing and an etiological classifi cation of human genetic diseases have been succeded. The new discoveries of neurodegenerative diseases were framed in specific affiliation groups, which made the existent classifi cation and subsequent discoveries easier. Therefore, studying small or isolated populations allowed marking the clinical forms of new muscular pathological entities. The authors present aspects of clinic anomopathological and of genetical identifi cation diagnosis of different forms of neuromuscular diseases apparently alike during the fi rst consultation. This presentation is based upon our cases during 1996-2006.

We are reffering to: eredodegenerative peripheral neuropathies-identified and diagnosed by us and then genetically confirmed; clinical diagnosed neuromuscular diseases like: progressive muscular dystrophies to which genetically studies have infirmed the clinical diagnosis or have specifi ed the form of myopathy; rare eredodegenerative diseases: recessive mutations or muscular agenesis; mitochondrial encefalomyopathies; rare diseases in population isolates with limb deformities. Our diagnosis depends on clinical knowledge, genetic explanation and multilateral approach in time, knowing that there are several cases which need more precise framing than cases which are put a diagnosis from the beginning.