Brain Diseases

Neurogenetic Diseases

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Neurogenetic disease is caused by a defect in one or more genes which affects the nervous system.

Neurogenetic diseases include Huntington’s disease, Kennedy’s disease, spinocerebellar ataxia, spinal muscular atrophy, hereditary motor neuron disease, early onset muscle disorders, Charcot-Marie-Tooth neuropathies, hereditary spastic paraplegias, Friedreich’s ataxia, muscular dystrophies (Duchenne and LGMD) and congenital muscular dystrophies and myopathies.

Neurogenetic disease often results in a severe and often progressive disability. To diagnose neurogenetic disease, doctors typically review patients’ medical records, study their family history, interview and examine them, and conduct or obtain additional testing, such as genetic testing and neuro-imaging.

Gene therapeutic approaches provide promise for a cure for some of these diseases (NCBI). In 2019, the first gene therapy treatment for any neurogenetic disease was approved for use as treatment for spinal muscular atrophy, paving the way for future applications of this approach. Similar therapies are already being developed for Duchenne and other types of muscular dystrophies. This revolutionary, life-saving treatment underscores our core belief that if we cure one disease, we will cure many.