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[1] [2] In men, there may be early balding and infertility. [1] While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. [1] Myotonic dystrophy is caused by a genetic mutation in one of two genes. Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type 2 (DM2). [1]
The narrowing is caused by a ring of mucosal tissue (which lines the esophagus) or muscular tissue. [1] A Schatzki ring is a specific type of "esophageal ring", and Schatzki rings are further subdivided into those above the esophagus / stomach junction (A rings), [ 2 ] and those found at the squamocolumnar junction in the lower esophagus (B rings).
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Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects.
Transition to the ICD-11 will take place at a different time in different countries. The condition is a communication disorder in which there are difficulties with verbal and written expression. [1] It is a specific language impairment characterized by an ability to use expressive spoken language that is markedly below the appropriate level for ...
Pneumoperitoneum is pneumatosis (abnormal presence of air or other gas) in the peritoneal cavity, a potential space within the abdominal cavity.The most common cause is a perforated abdominal organ, generally from a perforated peptic ulcer, although any part of the bowel may perforate from a benign ulcer, tumor or abdominal trauma.
Myokymia is an involuntary, spontaneous, localized quivering of a few muscles, or bundles within a muscle, but which are insufficient to move a joint.One type is superior oblique myokymia.
Eosinophilic esophagitis (EoE) is an allergic inflammatory condition of the esophagus that involves eosinophils, a type of white blood cell.In healthy individuals, the esophagus is typically devoid of eosinophils. [2]