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Hypotonia is a state of low muscle tone [1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
Integrin α7 weakness which is present at birth, poor muscle tone with late walking, loss of muscle tissue, intellectual disability.Furthermore, the creatine kinase level was elevated. [28] Fukuyama CMD-in Western countries this type of CMD is rare, but it is common in Japan. The effects this disease has on infants are on a spectrum of severity.
The skeletal muscles of individuals with one of these mutations exhibited easy fatigability, hypotonia (i.e., poor muscle tone), weakness, and/or delayed development of facial, bulbar, limb, respiratory, head, and/or back skeletal muscles. [21] Mutations in the COLQ, CHRNE, RAPSN, Dok-7, and CHAT genes were the most common mutations causing ...
The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients are unable to walk. [15]
Overall muscle weakness, poor muscle tone, limpness or a tendency to flop; Difficulty achieving developmental milestones, difficulty sitting/standing/walking; In small children: adopting of a frog-leg position when sitting (hips abducted and knees flexed)
PWS symptoms can range from poor muscle tone during infancy to behavioral problems in early childhood. Some symptoms often found in infants, besides poor muscle tone, are a lack of eye coordination; almond-shaped eyes; thin upper lip; and, due to poor muscle tone, lack of a strong sucking reflex.
In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development. Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone.
Wiedemann–Steiner syndrome (WSS) [2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone . The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. [4]