Spinal muscular atrophy is one of the most common causes of death in babies under the age of 2.
It progressively destroys lower motor neurons - nerve cells in the brain stem and spinal cord that control essential voluntary muscle activity such as speaking, walking, breathing and swallowing.
The first national conference on SMA was held in Beijing in August and a report on those with the disorder in China was made public.
Of the 233 sufferers highlighted, most were diagnosed before the age of 2, but did not receive the proper medical tests and treatment, such as corrective surgery, pulmonary function tests and regular medical consultations.
Among them, only one patient had scoliosis corrective surgery, less than 7.5 percent of them had pulmonary function tests, and 11.2 percent had regular medical consultations. According to the report, a lot of work needs to be done to help China's SMA sufferers access medical treatment and recovery facilities.
At present, few have the nasal or stomach tubes they need to eat comfortably and only a handful can afford to use non-invasive ventilators.
The two-day conference gathered together 10 top SMA experts from around the world.
They held in-depth discussions on fundamental research into the disease, clinical diagnosis and treatment, prenatal diagnosis and nursing experiences.
In addition to the conference, the Spinal Muscular Atrophy Awareness Month public health and awareness campaign was held in China this year, aiming to increase knowledge of the disorder and associated precautionary measures.
