About The Medical Condition Congenital Myotonic Dystrophy

Find the definition of the medical term Congenital Myotonic Dystrophy. Congenital Myotonic Dystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy Medical Condition |
---|
What's The Definition Of The Medical Condition Congenital Myotonic Dystrophy?
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Schizoid Personality Disorders ‐ A personality disorder manifested by a profound defect in the…
- Deferoximine ‐ Natural product isolated from Streptomyces pilosus. It forms…
- BPTI, Basic Pancreatic Trypsin Inhibitor ‐ A single-chain polypeptide derived from bovine tissues consisting…
- Hyperprolactinemias ‐ Increased levels of prolactin in the blood, which may be associated…
- Primary Supratentorial Neoplasm ‐ Primary and metastatic (secondary) tumors of the brain located…
- Clinical Practice Pattern ‐ Patterns of practice related to diagnosis and treatment as especially…
- Erythrocyte Aggregation, Intravascular ‐ The massing or clumping of erythrocytes in intact blood vessels…
- Mononucleotide Adenylyltransferase, Nicotinamide ‐ An enzyme that catalyzes reversibly the transfer of the adenylyl…
- Voice ‐ The sounds produced by humans by the passage of air through the…
- Blepharophimoses ‐ The abnormal narrowness of the palpebral fissure in the horizontal…