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These symptoms first start out with dysfunctions of the autonomic nervous system which result in symptoms such as abnormal functioning of both the bladder and bowel, recurrent blood pressure drops whenever patients stand up, and male erectile dysfunction. [8] [9] [10] Rarely, anhidrosis might also occur alongside these symptoms. [9] [8] [11] [10]
Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) [1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease.
The adult form commonly begins after age 16 often with an onset in the 4th or 5th decade of life and presents as a psychiatric disorder or progressive dementia. Adult-onset MLD usually progresses more slowly than the late infantile and juvenile forms, with a protracted course of a decade or more.
These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson's disease or multiple sclerosis, or may present primarily as a psychiatric disorder.
The neurological disorders and symptoms which occur with VWM are not specific to countries; they are the same all over the world. [4] Neurological abnormalities may not always be present in those who experience onset as adults. Symptoms generally appear in young children or infants who were previously developing fairly normally. [citation needed]
An average clinical profile from published studies shows that the median onset age for HDLS patients is 44.3 years with a mean disease duration of 5.8 years and mean age of death at 53.2 years. [ 2 ] [ 11 ] As of 2012, there have been around 15 cases identified with at least 11 sporadic cases of HDLS.
Multisystem Inflammatory Syndrome in adults MIS-C Multisystem Inflammatory Syndrome in children MJD Machado-Joseph disease: ML mucolipidoses: MLD Metachromatic leukodystrophy: MMA Monomelic amyotrophy: MMR Measles, mumps, rubella: MMRV Measles, mumps, rubella, varicella: MND Motor neuron disease: MODY Maturity-onset diabetes of the young: MOH