More than EDS
Other illness or syndromes are sometimes found in those with Ehlers-Danlos Sydrome, described below are two of the more common ones.
What are Chiari malformations?
Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance.
Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.
CMs may develop when the bony space is smaller than normal, causing the cerebellum and brain stem to be pushed downward into the foramen magnum and into the upper spinal canal. The resulting pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF) — the clear liquid that surrounds and cushions the brain and spinal cord — to and from the brain.
What causes these malformations?
CM has several different causes. It can be caused by structural defects in the brain and spinal cord that occur during
fetal development, whether caused by genetic mutations or lack of proper vitamins or nutrients in the maternal
diet. This is called primary or congenital CM. It can also be caused later in life if spinal fluid is drained excessively from the lumbar or thoracic areas of the spine either due to injury, exposure to harmful substances, or infection. This is called acquired or secondary CM. Primary CM is much more common than secondary CM.
How are they classified?
CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal.
Type I involves the extension of the cerebellar tonsils (the lower part of the cerebellum) into the foramen magnum, without involving the brain stem. Normally, only the spinal cord passes through this opening. Type I — which may not cause symptoms — is the most common form of CM and is usually first noticed in adolescence or adulthood, often by accident during an examination for another condition. Type I is the only type of CM that can be acquired.
Type II also called classic CM, involves the extension of both cerebellar and brain stem tissue into the foramen
magnum. Also, the cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum) may be only partially complete or absent. Type II is usually accompanied by a myelomeningocele — a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord and its protective membrane to protrude through a sac-like opening in the back. A myelomeningocele usually results in partial or complete paralysis of the area below the spinal opening. The term Arnold-Chiari malformation (named after two
pioneering researchers) is specific to Type II malformations.
Type III is the most serious form of CM. The cerebellum and brain stem protrude, or herniate, through the foramen magnum and into the spinal cord. Part of the brain’s fourth ventricle, a cavity that connects with the upper parts of the brain and circulates CSF, may also protrude through the hole and into the spinal cord. In rare instances, the herniated
cerebellar tissue can enter an occipital encephalocele, a pouch-like structure that protrudes out of the back of the head or the neck and contains brain matter. The covering of the brain or spinal cord can also protrude through an abnormal opening in the back or skull. Type III causes severe neurological defects.
Type IV involves an incomplete or underdeveloped cerebellum — a condition known as cerebellar hypoplasia. In this
rare form of CM, the cerebellar tonsils are located in a normal position, but parts of the cerebellum are missing, and portions of the skull and spinal cord may be visible.
Another form of the disorder, under debate by some scientists, is Type 0, in which there is no protrusion of the
cerebellum through the foramen magnum but headache and other symptoms of CM are present.
What are the symptoms of a Chiari malformation?
Individuals with CM may complain of:
numbness or other abnormal feelings in the arms or legs
ringing or buzzing in the ears
headache made worse by coughing or straining
Hand coordination and fine motor skills may be affected. Symptoms may change for some individuals, depending on the buildup of CSF and resulting pressure on the tissues and nerves. Persons with a Type 1 CM may not have symptoms. Adolescents and adults who have CM but no symptoms initially may, later in life, develop signs of the disorder. Infants may have symptoms from any type of CM and may have difficulty swallowing, irritability when being fed, excessive drooling, a weak cry, gagging or vomiting, arm weakness, a stiff neck, breathing problems, developmental delays, and an inability to gain weight.
How are Chiari malformations diagnosed?
Many people with CMs have no symptoms and their malformations are discovered only during the course of diagnosis or
treatment for another disorder. The doctor will perform a physical exam and check the person's memory, cognition,
balance (a function controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled
by the spinal cord). The physician may also order one of the following diagnostic tests:
An X-ray uses electromagnetic energy to produce images of bones and certain tissues on film. An X-ray of the
head and neck cannot reveal a CM but can identify bone abnormalities that are often associated with CM. This safe
and painless procedure can be done in a doctor’s office and takes only a few minutes.
Computed tomography (also called a CT scan) uses X-rays and a computer to produce two-dimensional pictures of bone and vascular irregularities, certain brain tumors and cysts, brain damage from head injury, and other disorders. Scanning takes about 3 to 5 minutes. This painless, noninvasive procedure is done at an imaging center or hospital on an outpatient basis and can identify hydrocephalus and bone abnormalities associated with CM.
Magnetic resonance imaging (MRI) is the imaging procedure most often used to diagnose a CM. Like CT, it is painless and noninvasive and is performed at an imaging center or hospital. MRI uses radio waves and a powerful magnetic field to produce either a detailed three-dimensional picture or a two-dimensional “slice” of body structures, including tissues, organs, bones and nerves. Depending on the part(s) of the body to be scanned, MRI can take up to an hour
How are they treated?
Some CMs are asymptomatic and do not interfere with a person’s activities of daily living. In other cases, medications may ease certain symptoms, such as pain.
Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. Most individuals who have surgery see a reduction in their symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition.
Posterior fossa decompression surgery is performed on adults with CM to create more space for the cerebellum and to relieve pressure on the spinal column. Surgery involves making an incision at the back of the head and removing a small portion of the bottom of the skull (and sometimes part of the spinal column) to correct the irregular bony structure. The neurosurgeon may use a procedure called electrocautery to shrink the cerebellar tonsils.
This surgical technique involves destroying tissue with high-frequency electrical currents.
A related procedure, called a spinal laminectomy, involves the surgical removal of part of the arched, bony roof of
the spinal canal (the lamina) to increase the size of the spinal canal and relieve pressure on the spinal cord and nerve roots.
The surgeon may also make an incision in the dura (the covering of the brain) to examine the brain and spinal cord. Additional tissue may be added to the dura to create more space for the flow of CSF.
Infants and children with myelomeningocele may require surgery to reposition the spinal cord and close the opening in the back.
(definition from www.dinet.org)
Dysautonomia is the dysregulation of the autonomic nervous system. The autonomic nervous system is the master regulator of organ function throughout the body. It is involved in the control of heart rate, blood pressure, temperature, respiration, digestion and other vital functions. Dysregulation of the autonomic nervous system can produce the apparent malfunction of the organs it regulates. For this reason, dysautonomia patients often present with numerous, seemingly unrelated maladies. One such malady is Postural Tachycardia Syndrome.
Postural Tachycardia Syndrome (P.O.T.S)
The defining feature of POTS is an excessive heart rate upon standing. A rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising is the diagnostic criteria many doctors use. Once suspected, a tilt table test will be performed to confirm the diagnosis.
POTS symptoms can be life altering and and quite disabling. According to research POTS patients use more energy than healthy people to do the same tasks. Standing, walking, talking, even household work and activities such as eating can be taxing on a person with POTS.
Many people with POTS are disabled and unable to work. POTS patients have been reported to suffer from a degree of functional impairment similar to that seen in conditions such as chronic obstructive pulmonary disease and congestive heart failure, yet these patients are frequently misdiagnosed as having severe anxiety or panic disorder.
Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age. Some women report an increase in episodes of POTS right before their menstrual periods. POTS often begins after a pregnancy, major surgery, trauma, or a viral illness.
Though orthostatic intolerance is the key feature, there are many other symptoms that accompany this syndrome which can make POTS very difficult to diagnose.
The more common symptoms are:orthostatic intolerance
syncope and near syncope
TreatmentTreatments for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain.
More information on Chiari Malformation can be found at http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm
More information on Dysautonomia and P.O.T.S can be found at http://www.dinet.org/pots_an_overview.htm and http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm