Schwartz-Jampel syndrome (SJS) is an autosomal recessive condition. It is characterized by muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. This disorder is caused by a genetic abnormality linked to one or more regions of the first chromo\u00ac some. This disorder is known by several other names: myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Schwartz-Jampel-Aberfeld syndrome (SJA syndrome), and chondrodystrophic myotonia. Generally, authorities now recognize subtypes of Schwartz- Jampel syndrome. Type 1 is the classic type, usually apparent at birth. Type 1A is often not diagnosed until later in childhood and tends to be less severe. Type IB is apparent at birth and is more clinically severe. Type 2 is noticeable at birth; however, it does not map onto the same chromosome as Type 1 does and is probably a disorder known as Stuve-Wiedermann, which is more often discussed in the rheumatological and orthopedic literature.<\/p>\n
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Schwartz-Jampel syndrome (SJS) is an autosomal recessive condition. It is characterized by muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. This disorder is caused by a genetic abnormality linked to one or more regions of the first chromo\u00ac some. This disorder is known by several other names: myotonic myopathy, dwarfism, chondrodystrophy, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[19],"tags":[],"class_list":["post-109276","post","type-post","status-publish","format-standard","hentry","category-s"],"yoast_head":"\n