Archive

Ehlers-Danlos Syndromes [EDS]

Published: 20 November 2017
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A collection of genetic disorders that involve mutations of the protein collagen. Connective tissues such as collagen, maintain the skin, bones, blood vessels, and many other organs and tissues. All types of Ehlers-Danlos Syndromes can affect the joints and skin. Each type comes with its own set of signs and symptoms, however it is common for symptoms to overlap from one type to another, making genetic testing important if more serious types are suspected. Currently, genetic testing is available for all types except Hypermobility Type (hEDS).

Some common attributes are: easy bruising, elastic and fragile skin, abnormal scarring and overly flexible joints.

There are now thirteen recognized sub-types of EDS:

  • Classical EDS (cEDS)
  • Classical-like EDS (clEDS)
  • Cardiac-valvular EDS (cvEDS)
  • Vascular EDS (vEDS)
  • Hypermobile EDS
  • Arthrochalasia EDS (aEDS)
  • Dermatosparaxis EDS (dEDS)
  • Kyphoscoliotic EDS (kEDS)
  • Brittle Cornea Syndrome (BCS)
  • Spondylodysplastic EDS (spEDS)
  • Musculocontractural EDS (mcEDS)
  • Myopathic EDS (mEDS)
  • Periodontal EDS (pEDS)

 

 

Syringomyelia [SM]

Published: 20 November 2017
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A chronic and often progressive neurological condition in which a cyst (syrinx) fills with cerebrospinal fluid (CSF) inside the spinal cord, often enlarging and further compromising the spinal cord. The extent of damage done by a syrinx often depends on the size in diameter and location of the syrinx (as it tends to affect any areas at or below the syrinx).

These syrinxes are believed to form from the blockage of CSF (such as that which is consistent with a Chiari malformation, a spinal cyst, a bulging/herniated disc, a spinal cord trauma/injury, or even meningitis can cause inflammation that can obstruct the flow of CSF).

Symptoms generally include (from the syrinx down): muscle weakness, pain, and spasms in legs; pain, tingling, burning of arms; muscle wasting (atrophy); loss of reflexes; numbness, pain, and stiffness in back/shoulders/upper chest (cape-like area); neck pain; stiffness of muscles; muscle contractions (fasciculations); bowel & bladder dysfunction; scoliosis; paralysis (rare).

Dysautonomia

Published: 20 November 2017
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Dysautonomia is an encompassing term used to describe any dysfunction of the Autonomic Nervous System (ANS), both Sympathetic and Parasympathetic divisions. The ANS is the part of the nervous system that regulates everything that happens in the body automatically, without cognitive thought, such as: respiration, swallowing, heart rate/blood pressure, dilation/constriction of pupils, organ function (including the stomach and intestines that work together for digestion), metabolism, temperature control (ability to sweat/shiver), the creation of bodily fluids (sweat, saliva and tears), the creation/release of chemicals and chemical reactions, sexual responses, etc. Dysautonomia is most common amongst those with damage done to the brainstem or Vagus Nerve.

Examples of Diagnoses of Dysautonomia include: Postural Orthostatic Tachycardia Syndrome (POTS), Neurocardiogenic Syncope (NCS) and Multiple System Atrophy (MSA).

Postural Orthostatic Tachycardia Syndrome [POTS]

Published: 9 April 2017
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A form of dysautonomia.  Often abbreviated as POTS, it is an abnormal increase in heart rate upon standing.   POTS is diagnosed by a tilt table test, or prolonged standing test, and a test is considered positive for POTS when an adult experience an increase in heart rate of 30 beats per minute within ten minutes of standing (or 40 bpm for an adolescent), or if the heart rate reaches 120 or above.  A diagnosis also requires that a patient experiences symptoms such as lightheadedness, syncope (fainting), shakiness, fatigue, anxiety, nausea, vomiting, sweating and fatigue.

Decompression Surgery

Published: 2 April 2017
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Surgery intended to alleviated the compression caused by a Chiari Malformation, and restore the flow of cerebrospinal fluid. While some surgeons prefer a conservative approach to surgery such as a “bone only” decompression or a “Minimally Invasive Subpial Tonsillectomy,” a full decompression usually consists of:

Note: It is very important that comorbid conditions are investigated prior to Decompression Surgery. Failure to realize certain conditions can lead to post-surgical complications and/or a failed decompression surgery.

 

Chiari Specialist

Published: 1 April 2017
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When we speak of a “Chiari Specialist,” we are generally speaking of a doctor (usually a Neurosurgeon) who has made Chiari Malformation and its comorbid conditions, their primary practice. While they might do other neurosurgical procedures, the number of Chiarians they treat, far outweigh their other patients (usually several a day/week). Because they have made the successful treatment of Chiari Malformation their life’s work, they usually have published research for patients and other doctors to reference.

Pseudoxanthoma Elasticum (PXE) [PXE]

Published: 3 July 2016
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An inherited disorder caused by genetic mutations that affect the connective tissue in some body parts.  The elastic tissue becomes mineralized and there is a buildup of deposits made from calcium and other minerals in the elastic fibers.  Parts of the body effected can be, but are not limited to the skin, eyes, cardiovascular and gastrointestinal system.

This is a progressive disorder and unfortunately at this time there is no way to predict the progression in different patients.  Each case is unique. For instance, one of the most common signs of the condition is skin lesions – however, there are patients that never develop them.

Recommended Doctor(s) would depend on each specific way it manifests: Rheumatologist (overall connective tissue), Cardiologist (heart and vascular), Gastroenterologist (gastrointestinal), etc.

Loeys-Dietz Syndrome

Published: 3 July 2016
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A connective tissue disorder with four specific types; which are differentiated by their genetic causes.  Signs and symptoms have no specific onset age range and the severity also ranges by person. One key sign of the condition is an enlarged aorta but symptoms are not limited to the heart.  Signs and symptoms can also be found in the blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

Nocturia

Published: 1 July 2016
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A condition in which the kidneys have an over production of urine at night that leads to waking multiple times in order to empty the bladder.

Epidermolysis Bullosa (EB)

Published: 1 July 2016
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Epidermolysis Bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah)

A connective tissue disorder characterized by the formation of blisters resulting from trivial trauma. These blisters may materialize externally (on the skin) or internally, being found in the mouth, esophagus, stomach, intestines, and/or bladder. EB is believed to affect approximately 1 in every 20,000 births in the United States, and the severity of symptoms can range from mild to life-threatening. While no cure has been found, mild forms can improve with with age.

EB is genetic and is characterized into three types. Depending on the type it can be either autosomal dominant (requiring only one parent with the gene) or autosomal recessive (requiring both parents to have the gene) and genetically involves defects in the collagen, lanolin and keratin.

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