JANSEN'S METAPHYSEAL CHONDRODYSPLASIA
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).
JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide. There are only 2 known families, from Dubai and Texas, in which the disease was passed from mother to daughter (Texas), and from a mother to her 2 sons.
Blood levels of parathyroid hormone (PTH) are undetectable, but the mutation in the PTH1R leads to auto-activation of the signaling as though the hormone PTH is present. Severe JMC produces a dwarfing phenotype, or short stature.
Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions.
Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia (reduced blood levels of phosphate), and elevated urinary calcium and phosphate, are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.
PHYSICAL IRREGULARITIES OFTEN ASSOCIATED WITH JANSEN'S INCLUDE:
- prominent or protruding eyes,
- a high-arched palate, micrognathia or abnormal smallness of the jaws – particularly the lower (mandible) jaw,
- choanal stenosis,
- wide cranial sutures and
- irregular formation of the long bones which can resemble rickets.
- Nephrocalcinosis (accumulation of calcium in the renal interstitium) is seen commonly as well.
Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms
Few homoeopathic medicine can be thought of in the treatment of Jansen's metaphyseal chondrodysplasia are:
silicea, baryta carb., calcarea phos, abrotanum, etc.