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Classical-like Ehlers-Danlos syndrome

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Other Names: EDS due to TNX deficiency; TNX deficiency; Ehlers-Danlos syndrome, classic-like type; EDS, classic-like type; Classical-like EDS type 1; Classical-like Ehlers-Danlos syndrome type 1; clEDS type 1; Classical-like EDS; clEDS; Ehlers-Danlos syndrome due to tenascin-X deficiency

Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising.

Cause

Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. These individuals do not typically have easy bruising and stretchy skin. Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. These individuals may have additional symptoms. For example, sometimes deletions include both the TNXB gene and the CYP21A2 gene. Mutations within this gene are associated with one type of congenital adrenal hyperplasia (CAH), a group of genetic conditions that affect the glands that sit on top of the kidneys (adrenal glands).

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

It is characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity (hiatal hernia).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Arthralgia(Joint pain)
  • Bruising susceptibility(Bruise easily)
  • Fatigue(Tired)
  • Hyperextensible skin(Hyperelastic skin)
  • Muscular hypotonia(Low or weak muscle tone)
  • Myalgia(Muscle ache)
  • Proximal muscle weakness(Weakness in muscles of upper arms and upper legs)
  • Sensory neuropathy(Damage to nerves that sense feeling)
  • Skeletal muscle atrophy(Muscle degeneration)
  • Thin skin

5%-29% of people have these symptoms

  • Adrenal hypoplasia(Small adrenal glands)
  • Arrhythmia(Abnormal heart rate)
  • Gastrointestinal hemorrhage(Gastrointestinal bleeding)
  • Increased connective tissue
  • Mitral valve prolapse
  • Muscle fiber splitting
  • Precocious atherosclerosis
  • Proximal amyotrophy(Wasting of muscles near the body)
  • Spina bifida occulta
  • Stroke

Diagnosis

Treatment

There is no cure for classical-like EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

NIH genetic and rare disease info

Classical-like Ehlers-Danlos syndrome is a rare disease.


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