Definition:
Kallman syndrome, by itself, is a type of hypogonadism (which is a decrease in the function of the sex glands that produce hormones). This is caused by a lack of GnRH hormone (the one that releases gonadotropin).
The term Spastic paraplegia with Kallman syndrome has not been discussed in the previous years. This is a very rare genetic disease which is characterized chiefly by lower leg weakness and mild spasticity. Other signs include lack of production of the sex hormones and also the inability to smell odors.
Prevalence:
The Office of Rare Disease (National Institutes of Health) have categorized Kallman syndrome with spastic paraplegia as an uncommon or rare disease. The number of afflicted patients are lower than 200,000 of the entire population of the United States.
Symptoms and Signs:
The most common symptoms of Kallman syndrome with Spastic Paraplegia are spasticity of the lower legs; weakness of the lower legs; congenital inability to smell (which could be in the form of hyposmia or decreased ability of smelling or anosmia which is the complete smelling inability); and delays in puberty. The puberty delay signs could include not having fully-developed breasts.
A number of patients have also been reported to be color blind.
Causes:
The probable underlying causes of Kallman syndrome with spastic paraplegia are the following conditions: chromosome 8p inverted duplication syndrome; mental retardation (X-linked), syndromic caused by mutation of JARID1C; macrocephaly; short stature; malformations of CNS; spastic paraplegia; oculocerebral syndrome with hypopigmentation; and the Roy-Maroteaux-Kremp syndrome.
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kallmansyndromewithspasticparaplegia
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