Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving both upper and lower motor neurons. The total prevalence of ALS is [2-9]/100,000, with an annual incidence rate of 3/100,000. The disease progresses rapidly and clinically is considered to be progressive degeneration of the upper and lower motor neurons. Although this is a kind of rare disease, the mortality is high once it occurs, which has a great impact on patients and their families. Currently there is no treatment for either the sporadic or familial form. Therefore, it is of great significance to explore the diagnosis and treatment of familial amyotrophic lateral sclerosis (FALS). We report the diagnosis and treatment of a patient with familial ALS caused by mutation of the Cu/Zn superoxide dismutase (SOD1) gene c.425g > C (p.g142a), which is considered rare. We got to know that genetic testing of the patient and his immediate family members assisted in diagnosis and palliative care. Edaravone and Riluzole were used in this case according to the guideline in this case. The progress of the disease was alleviated and the survival experience of patients improved because of this medication administration. The aim of this case report is to provide a reference for the diagnosis and treatment strategy in FALS. What's more, further exploration of treatment using integrated traditional Chinese and Western medicine to delay the disease process has great significance for improved patient outcomes.