SMA type 3 Type 3 SMA, also called juvenile SMA or Kugelberg-Welander syndrome, is a milder form of the disease defined by symptoms that appear between 18 months of age and the end of adolescence. Children with this disease type are able to walk as toddlers; however as the disease progre...
SMA type 3 life expectancyAlso known as juvenile SMA or Kugelberg-Welander syndrome, SMA type 3 is a milder form of SMA. Its symptoms may appear anywhere between 18 months of age and the end of adolescence.People with SMA type 3 have a normal life expectancy....
Side effects including acute viral syndrome, thrombocytopenia, and transaminitis may be higher than those reported in younger, smaller patients.Susan MatesanzElizabeth KichulaNeurology
The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. These are not all of the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You...
Type 3 This type is also called Kugelberg-Welander syndrome. It’s usually diagnosed around 18 months of age, but symptoms can start in young adulthood. How much type 3 progresses in children will depend a lot on how much they learn to move. Children with this can learn to walk. But ...
被引量: 1发表: 2015年 Coexistence of type 2 diabetes mellitus, arginine vasopressin deficiency, and Marfan syndrome: A case report Diabetes mellitus (DM) and arginine vasopressin deficiency (AVP-D) are characterized by polyuria. Marfan syndrome is an autosomal dominant disorder caused ... Y Le,...
Executive functions and memory abilities in children with 22q11.2 deletion syndrome OBJECTIVE: Velo-cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is the most common known microdeletion syndrome. One of the genes in the dele... LE Campbell,R Azuma,F Ambery,... - 《Aust N ...
The juvenile (Kugel-berg-Welander syndrome) affects primarily the proximal limb muscles and frequently involves twitching. This form was assigned to human chromosome 5q11.2-q13.3. The prevalence of this type is about 1/6000 in newborns. The literature also distinguishes the Werdnig-Hoffmann ...
MSMDYS is a syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. Similarity: Belongs to the actin family. SWISS:...
Defects in ACTA2 are the cause of multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]. MSMDYS is a syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation...