spinal muscular atrophy, distal, congenital non-progressive

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spinal muscular atrophy, distal, congenital non-progressive

A clinically variable neuromuscular disorder (OMIM:600175) characterised by congenital motor neuron disorder restricted to the lower body.

Clinical findings
Non-progressive thigh muscle atrophy, weak thigh adductors and knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal.

Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.
References in periodicals archive ?
Second, subjects were directed to begin DSMAC on the computer in front of them, which began by asking them first to perform a Q-sort of the 25 camera features, then to assign weights to each on a scale having a range of 1-100, with 100 being the most important.
This electro-optical system is called DSMAC (Digital Scene Matching Area Correlator) and it compares the image of the target area obtained by an infrared sensor in the missile's nose with a thermal image of the target under attack stored in the onboard computer before launch.
In addition reconnaissance photos in the form of digital reference images can be processed with the aid of a Rapid Strike Planning System (RSPS) to serve as the basis for terminal guidance with the DSMAC guidance system.