Infantile neuroaxonal dystrophy
Última actualización 18 Jul 2023
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Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.
Descripción
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.
Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. They generally have muscles that are at first weak and "floppy" (hypotonic), and then gradually become very stiff (spastic). Eventually, affected children lose the ability to move independently. Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children.
Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings.
Infantile neuroaxonal dystrophy is characterised by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
INAD
NBIA, PLA2G6-related
Neurodegeneration with brain iron accumulation, PLA2G6-related
Seitelberger disease
Seitelberger's disease
Related patient information and medicines
Patient information leaflet
Dispraxia
Hearing difficulties (temporary or permanent). Functional speech disorders. Emotional distress. General learning difficulties. Medical causes of neuromuscular problems - eg, cerebral palsy. Muscular dystrophy (this is a rare condition that tends to run in families). Genetic disorders (eg, Down's syndrome ). What is the outlook for children with.
Patient information leaflet
Trastornos del almacenamiento de glucógeno
Most are diagnosed in childhood. Symptoms include weakness, tiredness and low blood sugar levels. Who gets glycogen storage disorders. Trastornos del almacenamiento de glucógeno son rare. It is estima that about one bebé in every 20,000 to 40,000 babies born tiene a glycogen storage disorder. Being extremely fat (obesity). If someone else in your family has a.
Patient information leaflet
Pruebas genéticas
What is genetic testing. Pruebas genéticas es a type of medical test that identifies changes in chromosomes, genes or proteins. Gene tests look for abnormalities in DNA taken from a person's blood, body fluids or tissues. Fluorescent in situ hybridisation (FISH) analysis - this test looks at certain parts of the chromosomes and can detect very small.
Patient information leaflet
Debilidad muscular
Rare causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare disorders but the best known and most common is Duchenne muscular dystrophy. Este occurs in children y leads to gradual loss of muscle power from toddlerhood. Algunos rare muscular dystrophies.
Patient information leaflet
Distrofia muscular de Duchenne
Distrofia muscular de Duchenne es a condition which causes progressive muscle weakness. It starts in childhood and may be noticed when a child has difficulty standing up, climbing or running. What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited (genetic) condition cuál affects muscle strength and function. It causes.
Patient information leaflet
Escoliosis y cifosis
Escoliosis is a back condition that causes the (back) spine to curve to the side - either left or right. Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. Scoliosis is usually mild and needs no treatment. This means the curve is caused by a condition whi... For example, it may happen in some.
Lecturas adicionales y referencias
- Infantile neuroaxonal dystrophy; MedlinePlus, National Library of Medicine.
- Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897.
- Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol. 2006 Sep;13(3):182-5. doi: 10.1016/j.spen.2006.08.007.
- Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19.
- Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e.
- McNeill A, Chinnery PF. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4.
- Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18.
- Polster B, Crosier M, Lindsay S, Hayflick S. Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. Brain Res Bull. 2010 Nov 20;83(6):374-9. doi: 10.1016/j.brainresbull.2010.08.011. Epub 2010 Sep 9.
- Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2012 Jan;27(1):42-53. doi: 10.1002/mds.23971. Epub 2011 Oct 26.
- Wu Y, Jiang Y, Gao Z, Wang J, Yuan Y, Xiong H, Chang X, Bao X, Zhang Y, Xiao J, Wu X. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. Eur J Neurol. 2009 Feb;16(2):240-5. doi: 10.1111/j.1468-1331.2008.02397.x. Epub 2008 Dec 9.
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