Disease Information for Infantile neuroaxonal dystrophy

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Clinical Manifestations
Signs & Symptoms
Hypertonia
Weak/Weak as a kitten (symptom)
Active reflexes
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Equinus Posture/Ankles
Hyperreflexia/DTRs increased
Involuntary movements
Mental Deficiency Child
Mental/motor retardation in children/signs
Nystagmus, pendular
Psychomotor regression/infant/child
Regressing neuromotor/skills child/signs
Slow Motor Development
Spasticity/Spastic gait
Weakness/Diffuse motor loss
Psychomotor retardation
Enervated/extreme acute fatigue
Walking difficulties
Weakness
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Course/Progressive/slowly chronic illness
Onset/Age 14-18 months
Onset/gradual
Onset/Infancy
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Childhood CNS degenerating disease/death
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Fetal-newborn
Population/Infant
Population/Toddler
Diagnostic Test Results
Pathology
BX/Nerve biopsy/abnormal
Electrodiagnosis
EMG/NCA Low amplitude
EMG/NCS Abnormal NC Time
Nerve Conduction Study Abnormal ENG
Associated Diseases & Rule outs
Rule Outs
Walker Warburg Syndrome
Associated Disease & Complications
CNS disease/involvement
Dementia
Developmental neurologic degeneration/child
Infantile neuroaxonal dystrophy (Seitelberger)
Mental retardation
Muscular dystrophy
Neurodevelopmental disorders
Paraplegia, spastic
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Motor neuron/unit disorder (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Lower Motor Neuron disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Specific lipid accumulation tissues
Pathophysiology/Axon degeneration nerve endings
Pathophysiology/Axon dystrophic swellings/spheroids distal
Pathophysiology/CNS degeneration
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/Muscular dystrophy disorder (ex)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
Synonyms
Synonym
Disease Seitelberger's, Dystrophies Infantile Neuroaxonal, Dystrophy Infantile Neuroaxonal, INAD, INAD Infant neuroaxon dystr, INAD Infantile neuroaxonal dystrophy, INAD1, Infantil neuroaxonal dystrophy, Infantile Neuroaxonal Dystrophies, Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy (disorder), Neuroaxonal Dystrophies Infantile, NEUROAXONAL DYSTROPHY INFANTILE, Seitelberger Disease, SEITELBERGERS DIS, Seitelbergers Disease, Seitelberger's disease, Spastic amaurotic axonal idiocy, Synonym/Co-natal Neuroaxonal dystrophy/Variant, Synonym/INAD (infantile neuronaxonal dystrophy), Synonym/Pre-natal neuroaxonal dystrophy/Variant, Synonym/Seitelberger disease
Definition

Seitelberger Disease (Infantile Neuroaxonal Dystrophy); INAD; Prenatal or Connatal Neuroaxonal Dystrophy;

Seitelberger Disease, also known as Infantile Neuroaxonal Dystrophy, is an extremely rare inherited degenerative disorder of the nervous system characterized by abnormalities of nerve endings (axons) within the brain and spinal cord (central nervous system) and outside the central nervous system (peripheral nerves); in most cases, infants and children with Seitelberger Disease appear to develop normally until approximately 14 to 18 months of age, when they may begin to experience progressively increased difficulties in walking; In other cases, symptoms may begin at approximately six to eight months of age, at which time infants may experience delays or an arrest in the acquisition of skills requiring the coordination of mental and physical activities (delayed psychomotor development); Affected infants and children may then begin to lose previously acquired skills (psychomotor regression) including sitting and standing and may demonstrate progressive neuromuscular impairment characterized by generalized muscle weakness, severely diminished muscle tone (hypotonia), abnormally exaggerated reflex responses (hyperreflexia), and/or unusually weak, depressed, or absent reflexes; sudden involuntary muscle spasms (spasticity) of the lower arms and legs (limbs), and progressive paralysis of the legs and lower part of the body (paraplegia); Progressive mental retardation occurs in association with gradual motor impairment; pendular nystagmus; crossing of the eyes (strabismus); gradual deterioration of the nerves of the eyes (optic atrophy), progressing to blindness; and/or hearing impairment;

pathology changes include swelling and degeneration of nerve endings (dystrophic axonal swellings or "spheroids") in certain areas of the brain and spinal cord (central nervous system or neuroaxis) and outside the central nervous system (peripheral nerves); In most cases, Seitelberger Disease is inherited as an autosomal recessive genetic trait--------------[NORD Website 2005

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NEJM (The New England Journal of Medicine)
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