Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Syringomelia

What is Syringomelia?

• Syringomelia is a condition in which a cavity or cyst develops within the spinal cord
• The cyst is known as a syrinx, and it is capable of elongating or expanding if left unaddressed
• As the condition progresses, a range of debilitating symptoms can occur
• Prevalence of syringomelia is around 8.4 in 100,000 people
• Most of the time, signs of the disorder appear gradually

How do you get It?

• The exact cause of syringomelia isn’t well understood, but scientists have identified that the condition can be acquired or congenital
• The congenital form is connected to Chiari malformation, which is a structural defect in the cerebellum causing it to protrude into the neck portion of spine
  • This can lead to the develop of a syrinx cyst in the cervical region of the spinal cord
  • Generally, the congenital form of syringomyelia, while the result of a congenital defect, is not passed down in families
• The acquired form occurs as a result of an event that occurs in the patient’s life. Medical events such as meningitis, serious physical trauma, internal bleeding, arachnoiditis, or tumors have been linked to the development of syringomelia
• The syrinx develops in the portion of the spinal cord that was damaged in one of these medical events
  • When this syrinx starts to expand, symptoms begin to develop

What are the Symptoms?

• As syringomelia can ultimately damage the spinal cord, it can inflict a wide range of neuropathic symptoms, such as:
  • Loss of sensation, especially in the hands
  • Chronic pain that may become severe
  • Abnormal sensations
  • Temporary or permanent paralysis or paresis (weakness of voluntary movement)
  • Abnormal sweating
  • Abnormal body temperature
  • Problems with bowel control
  • Vocal cord paralysis
  • Stiffness in the shoulders, back, and extremities
  • Loss of pain and temperature sensation
  • Straining
  • Coughing

How is it Treated?

• Syringomelia can be treated in a number of ways
• Surgery
  • In some cases, surgery is needed to treat syringomelia. However, surgery on the spinal cord carries significant risks
  • The potential outcomes of surgery must be weighed against potential complications
  • Surgery is often intended to correct whatever condition caused the development of the syrinx
  • Sometimes the procedure involves draining the syrinx. This can prevent the syringomelia from worsening
  • Unfortunately, surgery doesn’t lead to the complete resolution of symptoms
  • If not successful, symptoms can continue to progress, potentially required additional surgery
  • Generally, subsequent surgeries are less likely to succeed
  • A shunt may be implanted in some cases if the syrinx requires continual drainage
• Non-surgical treatments
  • In cases where surgery is not recommended, pain medication can be an important part of treatment
  • There are no medications that can sure syringomelia
  • Opioids are often used for pain relief
  • Radiation therapy may rarely be used if a tumor is present that can’t be surgically removed
• Some patients may not require treatment if symptoms are not occurring

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this illness from the Bobby Jones Chiari & Syringomelia Foundation.