الفهرس Only 14 pages are availabe for public view
 |  | from | 173 |  |  |
| | | from | 173 | | |
Abstract
Aim Of The Work Our Primary Objective Is To Determine The Geneties And Diagnostic Profile Of Neonates With Significant Hypotonia And The Advances In The Evaluation Of The Floppy Infant.Floppy infant, is a usual broad symptomatic label gIven to hypotonic children irrespective of etiology, and is a common diagnostic dilemma (Dua et aI., 2001). Hypotonia is the phenotype of several clinical conditions.
Since hypotonia is the phenotype of several clinical conditions that do not always lead to a favorable outcome, prompt diagnosis is important (Pisani and Carboni, 2005). The concept of central versus peripheral disorders causing hypotonia is clinically useful. Muscle tone is maintained at the peripheral level by the participation of the fusimotor system; a lesion interrupting the stretch reflexes at any level in the lower motor neuron (LMN) will result in a loss of muscle
tone and stretch reflexes i.e. flaccidity (Conn, 1995). The output of gamma motor neurons to the muscle spindle is influenced by supraspinal influences. These influences are predominantly inhibitory, thus lesions affecting the upper motor neuron result in the reduction of these inhibitory influences, in turn causing an increase in excitatory output of the gamma motor neurons to the muscle spindle. However, in early infancy, contrary to expected increase in muscle tone, the response to an upper motor neuron lesion in the early stages is flaccidity and loss of muscle tone. This pattern of hypotonia is usually associated with preserved or hyperactive reflexes, and later evolves into spasticity.