

Alveolar Microlthiasis
Pulmonary alveolar microlithiasis is a rare idiopathic condition characterized by widespreadintra-alveolar deposition of spherical calcium phosphate microliths(calcospherites)

Homocystinuria
Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency,is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase.It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected or can be acquired with a deficiency of B6, B12, or folate.

Primary lateral sclerosis
Primary lateral sclerosis (PLS) is a rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
PLS only affects upper motor neurons.There is no evidence of the degeneration of spinal motor neurons or muscle wasting (amyotrophy) that occurs in amyotrophic lateral sclerosis (ALS).




Published: Apr 18, 2019
Latest Revision: Apr 18, 2019
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