Genetic screening study begins national roll-out
Neurogenetic disease is a broad term that encompasses many diseases or conditions that impair the functioning of the nervous system and muscles. Symptoms may include muscular weakness, rigidity, loss of muscular control, myoclonus (twitching, spasming), and myalgia (muscle pain).
Neurogenetic disease can be caused by circulatory problems (stroke, etc.), immunological and autoimmune disorders, the failure of the electrical insulation surrounding nerves myelin, genetic/hereditary disorders, such as Huntington’s disease, certain tumors, the failure of the connections between the nerves and the muscle fibers, exposure to pernicious environmental chemicals, poisoning (including heavy metal poisoning), and importantly, unknown causes. The failure of the electrical insulation surrounding nerves, the myelin, is seen in certain deficiency diseases, such as the failure of the body’s system for absorbing vitamin B-12, and also the failure of the myelin is seen in multiple sclerosis and some other neurological diseases, especially in other autoimmune diseases and genetic diseases that attack the myelin.
Diseases of the motor end plate include myasthenia gravis, a form of muscle weakness due to antibodies to the acetylcholine receptor, and its related condition Lambert-Eaton myasthenic syndrome (LEMS). Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively. Myopathies are all diseases primarily resulting in primary muscle weakness, rather than affecting the nerves.
Muscular dystrophies, including Duchenne’s and Becker’s, are a large group of diseases, many of them hereditary or resulting from genetic mutations, where the muscle integrity is disrupted. They lead to progressive loss of strength and decreased life span.
Neurogenetic diseases are primarily caused by an alternation or mutation in our DNA. These mutations can cause conditions that affect our nervous system. Each year, thousands of Australians are diagnosed with an inherited condition categorised as a neurogenetic disease, and these disorders are typically chronic and debilitating. In some cases, they are degenerative and deadly.
There are many different types of neurogenetic diseases with various symptoms that can appear at birth or later in life. While most neurogenetic diseases are caused by genetic issues, only some of them are inherited.
Treatments for neurogenetic diseases differ, as the symptoms and impact of each condition varies greatly. Some treatments can include: