An introduction to clinical and diagnostic genetic management of neuromuscular disorders

Neuromuscular disorder is the term used for a wide range of human diseasesaffecting the peripheral nervous system and muscles. These disorders areresponsible for a spectrum of incapacity in voluntary movements. Also, thesymptoms can appear at any time of human lifespan. It has been elucidatedthat most of these disease are of a genetic origin, and different kind ofinheritance patterns have been observed among the affected families.Moreover, it has been shown various types of mutations such as pointmutations, small insertions and deletions, large deletions, duplications andrepeat expansions can cause genetic neuromuscular disorders. Today,diagnostic genetic testing have been improved to face an increasing range ofdisease genes. Development of next generation sequencing (NGS), have beenanticipated identification and facilitated diagnosis of causative genes.However, NGS is not helpful for all types of mutations. For instance, NGS is nota suitable technique to identify repeat expansions or copy number variations.Therefore, diagnostic laboratories are encountered with a challenge indiagnosis of neuromuscular disorders and have to be capable of a largenumber of techniques to meet the demand of clinicians. On the other hand,diagnostic molecular neurogenetics requires precise clinical and paraclinicalevaluations of the patient before genetic testing in order to focus on recruitingthe appropriate diagnostic test. So, to give better services to the patients,there should be a reciprocal collaboration between clinic and diagnosticlaboratory in management of the disorders.Regarding the patients referred to Neuromuscular clinic of Ghaem Hospitaland ACECR Medical Genetic diagnostic laboratory in Mashhad, we aimed toinvestigate how clinical and molecular diagnostic evaluations were effectivefor management of the disease. Considering potential social, legal, andfinancial barriers, we outlined an approach to genetic and clinical evaluationof the conditions.

کلیدواژه ها:

Neuromascular Disorders ، Next Generation Sequensing (NGS)