a severe form of muscular dystrophy marked by weakness of facial muscles and difficulty speaking. Weakness of the hands and feet precedes that in the shoulders and hips. Muscle spasms of the hands are usually present.
an inherited disorder which is characterised by frontal balding, facial and distal limb weakness, myotonia, early cataract formation and can be associated with diabetes mellitus and hypogonadism. X Y Z
gets its name from "myotonia", which means muscle stiffness. It is usually progressive although symptoms can appear at any time, from birth to old age.
an inherited (autosomal dominant) neuromuscular disorder that occurs in adults, characterized by progressive muscle weakness and wasting and myotonia; onset is usually in the third decade
a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
A genetic disorder with symptoms of myotonia, progressive muscle wasting and weakness, usually affecting the face, jaw and neck muscles. Caused by an increased number of repeated units of genetic material (called triplet repeats)within a gene. Exactly how this causes symptoms is not fully understood. search for Myotonic dystrophy
an inherited autosomal dominant disorder that causes muscle weakness and myotonia (inability of muscles to relax after use), which becomes more severe over time.
A condition of muscular wasting that can result in drooping lids, cataracts, and partial eye muscle paralysis.
Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by a wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations.