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In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [4] [1] HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22.
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, [1] is an autosomal dominant [2] neurodegenerative disease.
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 Medication overuse headaches: MPD ...
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Diagnosis is made based on clinical criteria, supported by nerve biopsy findings of reduced unmyelinated and small myelinated fibres, and can be confirmed with genetic testing. [ 1 ] [ 2 ] Differential diagnosis
Too much PMP22 (e.g. caused by gene duplication) results in CMT1A, and too little PMP22 (e.g. caused by gene deletion) results in HNPP. [10] Point mutations in PMP22 can result in CMT1E. [ 6 ] Gene duplication of PMP22 is the most common genetic cause of CMT; [ 11 ] [ 12 ] up to half of all cases confirmed by a genetic diagnosis are caused by a ...
The Pediatric Symptom Checklist (PSC) is a 35-item parent-report questionnaire designed to identify children with difficulties in psychosocial functioning. Its primary purpose is to alert pediatricians at an early point about which children would benefit from further assessment. [1]
Pronunciation follows convention outside the medical field, in which acronyms are generally pronounced as if they were a word (JAMA, SIDS), initialisms are generally pronounced as individual letters (DNA, SSRI), and abbreviations generally use the expansion (soln. = "solution", sup. = "superior").