Today, follow along on a case study exploration to see how a 52-year-old woman finally received a diagnosis of stiff person syndrome (SPS), a rare neurological disorder. According to the Fairfield Sun Times, the woman first went to the hospital in Japan to discuss her symptoms. The woman shared that these symptoms had occurred over an approximately 5-year period. However, in more recent times, the woman had experienced progressively worsening symptoms.
To get the full details of the woman’s symptoms and diagnostic journey, take a look at the findings published in BMJ Case Reports.
The Woman’s Story
So what exactly were these symptoms? The woman was facing:
- Intense and often painful muscle stiffness in her back and thighs
- Muscle rigidity in the legs
- Frequent tripping or falling
As these symptoms worsened, the woman became increasingly nervous about leaving the house. However, this period of progressively worsening symptoms also offered some insight. For example, the woman discovered that there were certain triggers for her muscle spasms or stiffness: sudden or unexpected light, noise, or touch.
Were her symptoms associated with her antidepressants, or was it something more? After halting antidepressant treatment, the woman’s symptoms remained. Following blood testing and analysis, doctors offered an alternate diagnosis of stiff person syndrome. This was due to high levels of GAD-targeting antibodies in the blood. These antibodies meant that the woman’s own immune system was mistakenly attacking nerve cells, causing GABA deficiency and inhibiting muscle control. Through this, the woman responded well to treatment and is now able to walk. In the future, she hopes that there is more awareness around this condition to help improve patients’ lives.
Stiff Person Syndrome (SPS)
As described briefly above, SPS is a rare and acquired neurological disorder. Due to the high amount of GAD antibodies, many also believe SPS to be an autoimmune condition. Regardless, SPS causes progressive muscle stiffness and rigidity and is characterized by bouts or “episodes” of painful muscle spasms. Approximately 1 in every 1,000,000 people has SPS. It seems to affect females slightly more than males and usually manifests between ages 30-60. Symptoms include:
- Progressive muscle stiffness in the torso
- Painful muscle spasms
- Changes in gait and posture
- Agoraphobia or dromophobia
- Unintended weight loss
- Asymmetrical muscle stiffness in the legs
- A hunched or slouched posture, or arched back, due to spinal curvatures
- Light and sound sensitivity
