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Diseases » Myotonic Dystrophy » Glossary
 

Glossary for Myotonic Dystrophy

  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Becker disease: A rare inherited neuromuscular disorder characterized by muscle stiffness when movement is initiated and difficulty relaxing muscles after movement had occurred. Becker disease is a recessively inherited form of myotonia congenita and usually occurs later in childhood than the dominantly inherited form and muscle stiffness is usually more severe.
  • Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
  • Cardiomyopathy: Any disease of the heart muscle
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Congenital myopathy: A very rare inherited disorder where muscles are overly-responsive to stimuli because of an abnormality in the muscle membranes. It causes prolonged muscle contraction which is muscle stiffness. The two main forms of myotonia congenital are Thomsen and Becker disease which are respectively inherited dominantly and recessively.
  • Dystrophia myotonica 1: A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts and hypogonadism.
  • Female infertility: Infertility that affects the female
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Male infertility: The inability of the male to reproduce
  • Muscle atrophy: Decrease in size and bulk of muscle.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscle hypertrophy: The increase in size of a muscle
  • Muscle stiffness: A difficulty in stretching a muscle
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Muscular Dystrophy: Any of various muscle wasting diseases
  • Muscular Hypertrophy: An increase in the size of the muscle cells.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Neuromuscular conditions: Conditions affecting the nerve-muscle systems.
  • Possible human carcinogenic exposure -- Phenytoin: Some evidence indicates that exposure to Phenytoin (an anticonvulsant medication) has a possible link to an increased risk of developing cancer in humans. The carcinogenicity of the substance may be influenced by the duration and level of exposure.
  • Proximal muscle weakness: Weakness of the proximal muscles
  • Reese-Ellsworth syndrome: A rare disorder characterized by iridogoniodysgenesis (underdeveloped iris and fluid channels in the eye) as well as mental retardation, cleft palate, syndactyly and muscle disease.
  • Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
  • Triplet Repeat Genetic Disorders: A disorder that is characterised by the repeat of a triplet sequence in the genetic sequence

 

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