Krabbe disease
Demyelinating genetic disorder
Krabbe disease is a rare, inherited neurological disorder that destroys the protective myelin coating around nerve cells in the brain and nervous system.
It typically appears in infancy, causing severe developmental regression, seizures, and muscle stiffness, and is usually fatal within the first few years of life.
The condition results from a deficiency of the enzyme galactocerebrosidase.
Less commonly, later-onset forms affect older children or adults with slower progression.
Nerve sheath degradation
- white matterPale neural fiber tissue
- neurodegenerationProgressive loss of neurons
- spasticityPathological muscle tightness
- neuropathyDamage to peripheral nerves
nerve damage · cognitive decline · seizures · hypertonia · irritability · paralysis · deafness · blindness
Permanent DNA alteration
- inheritanceProperty received from ancestors
- carrierOne that transports
- chromosomesGene-bearing nuclear structures
- allelesVariant forms of genes
genotype · pedigree · hereditary · genetic counseling · prenatal diagnosis · genetic testing · gene therapy · newborn screening
Favoring reform and innovation
- degenerativeCausing progressive decline
- terminalAt the endpoint
- incurableCannot be healed
- life expectancyAverage anticipated survival duration
deterioration · fatal · decline · debilitating · palliative · survival rate · quality of life
Infusing healthy hematopoietic cells
- gene therapyMedical DNA modification treatment
- palliative careRelief-focused medicine for illness
- supportive careMedical comfort without cure
- physical therapyRehabilitative movement-based medical care
Beginning before typical age
- developmental delaySlower-than-typical milestone achievement
- feeding difficultiesImpaired ability to eat
- failure to thriveInadequate childhood growth diagnosis
- regressionReturn to former state
Not identified enough
- awarenessState of perceiving reality
- advocacyPleading for a cause
- research fundingMoney for scholarly investigation
- epidemiologyStudy of disease spread
demyelination
Nerve sheath degradation
- white matterPale neural fiber tissue
- neurodegenerationProgressive loss of neurons
- spasticityPathological muscle tightness
neuropathy · nerve damage · cognitive decline · seizures · hypertonia · irritability · paralysis · deafness · blindness · encephalopathy
mutation
Permanent DNA alteration
- inheritanceProperty received from ancestors
- carrierOne that transports
- chromosomesGene-bearing nuclear structures
alleles · genotype · pedigree · hereditary · genetic counseling · prenatal diagnosis · genetic testing · gene therapy · newborn screening · family history
progressive
Favoring reform and innovation
- degenerativeCausing progressive decline
- terminalAt the endpoint
- incurableCannot be healed
life expectancy · deterioration · fatal · decline · debilitating · palliative · survival rate · quality of life
bone marrow transplant
Infusing healthy hematopoietic cells
- gene therapyMedical DNA modification treatment
- palliative careRelief-focused medicine for illness
- supportive careMedical comfort without cure
physical therapy · clinical trials · early intervention · donor matching
early onset
Beginning before typical age
- developmental delaySlower-than-typical milestone achievement
- feeding difficultiesImpaired ability to eat
- failure to thriveInadequate childhood growth diagnosis
underdiagnosed
Not identified enough
- awarenessState of perceiving reality
- advocacyPleading for a cause
- research fundingMoney for scholarly investigation
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell anemia, sickle cell, Down syndrome
- Rare Diseasesprogeria, Tay-Sachs, PKU, tuberous sclerosis, neurofibromatosis
- Metabolic DisordersPKU, Tay-Sachs, G6PD deficiency, Lesch-Nyhan syndrome, porphyria
- Myelin Disordersmultiple sclerosis, demyelination, Guillain-Barre, CIS, transverse myelitis
- storage diseases
- degenerationdegeneration, neurodegeneration, atrophy, deterioration, demyelination
Krabbe diseasecurable
Able to be healed
treatable · strep throat · bacterial infection · cured · bacterial meningitis
Krabbe diseaseinfectious disease
Pathogen-caused transmissible ailment
viral infection · bacterial infection · lifestyle disease · HIV/AIDS · influenza
Krabbe diseasemultiple sclerosis
Autoimmune demyelinating neurological disease