Clinical description Classic INAD usually presents between ages six months and three years with psychomotor delay and regression, delayed walking or gait disturbance. [orpha.net]

We think that the disease may present with developmental delay in infancy before the appearance of other signs, as in our patient. [annalsofian.org]

Symptoms usually present between 6 and 18 months of age. There is often rapid onset of motor and intellectual regression. Diminished muscle tone, called hypotonia, is also present. Hypotonia means the infant will be weak and ‘floppy’. [raregenomics.org]

Presentation on theme: "XIX Symposium Neuroradiologicum 4-9 October, 2010 Bologna Italy"— Presentation transcript: 1 XIX Symposium Neuroradiologicum 4-9 October, 2010 Bologna Italy MRI findings in patients with clinical onset consistent with Infantile [slideplayer.com]

The main exome findings for the patient are presented in Table II. [spandidos-publications.com]

• Feeding Difficulties

  Swallowing difficulty [ more ] 0002015 Dystonia 0001332 EMG: chronic denervation signs 0003444 Emotional lability Emotional instability 0000712 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Frontal bossing 0002007 Gait ataxia Inability [rarediseases.info.nih.gov]

  No feeding difficulties or hypotonia were noticed. Her motion and mental development were normal at 8 months after birth. At the age of 2 months, she achieved head control. Her parents noticed the onset of nystagmus at 6 months. [spandidos-publications.com]

• Difficulty Walking

  Many children experience delayed/difficulty walking, loss of neck control and low muscle tone in the trunk, which occurs early on. Eventually, muscle tightness and weakness in both arms and legs will follow. [inadcure.org]

• Pneumonia

  Lack of muscle strength causes difficulty with feeding and breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children. [en.wikipedia.org]

  Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children. [encyclopedia.pub]

  Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosum, and a small hippocampus. [karger.com]

  […] includes pharmacologic treatment of spasticity and seizures, oral or intrathecal baclofen for those with significant dystonia, physiotherapeutic treatment of spasticity and measures such as gastric feeding tube or tracheostomy to prevent aspiration pneumonia [orpha.net]

  Post-mortem examination showed pneumonia and bony sclerosis. [scinapse.io]

• Muscle Rigidity

  Choreoathetoid writhing movements, stuttering, dysphagia, muscle rigidity, and intermittent dystonia are prominent features. Seizures are uncommon. Older individuals may exhibit dementia and ambulation is eventually impaired. [disorders.eyes.arizona.edu]

  Clinical manifestations include progressive muscle spasticity; hyperreflexia; muscle rigidity; dystonia; dysarthria; and intellectual deterioration which progresses to severe dementia over several years. [icd10data.com]

  Spasticity and muscle rigidity usually begin in the legs and later develop in the arms. Parkinsonism is a condition marked by tremor, slowness, rigidity and poor balance. [nbiadisorders.org]

• Alopecia

  CRANIO E/O DELLE OSSA DELLA FACCIA, DEI TEGUMENTI E DELLE MUCOSE DISPLASIA FRONTONASALE ALX1-CORRELATA RNG040 ALTRE ANOMALIE CONGENITE GRAVI ED INVALIDANTI DEL CRANIO E/O DELLE OSSA DELLA FACCIA, DEI TEGUMENTI E DELLE MUCOSE DISPLASIA FRONTONASALE CON ALOPECIA [malattierare.regione.veneto.it]

  FOXN1 Inmunodeficiencia de células T, alopecia congénita y distrofia de las uñas AR DESCRIPCIÓN Inmunodeficiencia de células T, alopecia congénita y distrofia de las uñas: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson [genaden.com]

• Osteoporosis

  TCIRG1 Osteoporosis: Relacionada con TCIRG1 AR DESCRIPCIÓN Osteoporosis: Relacionada con TCIRG1: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. [genaden.com]

• Visual Impairment

  Severe spasticity, progressive cognitive decline and visual impairment can result in a vegetative state. Many affected patients do not survive beyond their first decade, but some survive into their teens or later. [orpha.net]

  Neurodegeneration with Brain Iron Accumulation Clinical Characteristics Ocular Features: Optic atrophy is a major ocular feature and the primary cause of visual impairment. [disorders.eyes.arizona.edu]

  Teachers for the visually impaired will be able to give advice as to how to help the child makes use of the vision they have and how best to help stimulate them in ways that do not depend on vision. [gosh.nhs.uk]

  The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. [scielo.mec.pt]

  impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 1%-4% of people have these symptoms Areflexia Absent tendon reflexes 0001284 Decreased nerve conduction velocity 0000762 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]

• Psychiatric Symptoms

  Psychiatric symptoms are more frequent in the later onset form. Retinal degeneration is common, particularly in classic PKAN. PLAN, or PLA2G6-Associated Neurodegeneration, is named for the responsible gene, PLA2G6. [nbiadisorders.org]

  Two patients manifested psychiatric symptoms, including excessive crying, ADHD and aggressive behavior. [ojrd.biomedcentral.com]

  Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression. [76.162.247.120]

• Short Attention Span

  attention span Poor attention span Problem paying attention [ more ] 0000736 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Spastic tetraplegia 0002510 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Strabismus [rarediseases.info.nih.gov]

• Dysarthria

  Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes. [icd10data.com]

  Tetraparesis occurs late in the disease and is not necessarily preceded by truncal hypotonia and patients are more likely to have progressive dystonia and dysarthria. Optic atrophy, nystagmus and seizures occur as in classic INAD. [orpha.net]

  Common muscle symptoms: -Involuntary muscle contractions (dystonia) -Poor articulation and speech (dysarthria) -Muscle tightness and weakness in both arms and legs -Reduced joint mobility due to muscle tightness -Overactive reflexes developing early disease [rarediseases.org]

  Dystonia affects the muscles in the mouth and throat, which may cause poor articulation and slurring (dysarthria), and difficulty swallowing (dysphagia). [nbiadisorders.org]

  Due to an impairment of the function of cranial nerves (Bulbar dysfunction), children affected by INAD often have speech problems, Dysarthria (poor articulation or slurring), Dysphonia (defective use of the voice), Dysphasia (difficulty in using or understanding [inadcure.org]

• Hyperactivity

  The atypical form begins in early childhood with gait instability, ataxia, speech delay, autistic features with neurologic deterioration and extrapyramidal findings; neuropsychiatric disturbances including poor attention, hyperactivity and emotional lability [scielo.mec.pt]

  […] movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Generalized muscle weakness 0003324 Gliosis 0002171 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hyperactivity [rarediseases.info.nih.gov]

  […] tightness and weakness in both arms and legs -Reduced joint mobility due to muscle tightness -Overactive reflexes developing early disease -Absent reflexes developing late in disease Common neuropsychiatric symptoms: -Poor attention span -Impulsivity -Hyperactivity [rarediseases.org]

• Babinski Sign

  Infantile neuroaxonal dystrophy (INAD): Description, Causes and Risk Factors: A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia and progressive blindness. [medigoo.com]

  0007256 Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Abnormality of visual evoked potentials 0000649 Ataxia 0001251 Autosomal recessive inheritance 0000007 Babinski sign 0003487 Bradykinesia Slow [rarediseases.info.nih.gov]

  Other neurological signs that were reported in the physical examination records include positive Babinski sign in three patients, dystonia in three patients, facial dyskinesia in one patient, tongue fasciculations in one patient, dysdiadochokinesia in [ojrd.biomedcentral.com]

• Dysmetria

  […] development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysarthria Difficulty articulating speech 0001260 Dysdiadochokinesis Difficulty performing quick and alternating movements 0002075 Dysmetria [rarediseases.info.nih.gov]

• Involuntary Movements

  Introduction PLAN is classified as a form of neurodegeneration with brain iron accumulation (NBIA), a group of disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and eye disease. [rarediseases.org]

Her extensive metabolic and hypercoagulable workup was unremarkable. She continued to have normal developmental milestones up to the age of 2 years when she started to lose her ability to sit, roll over and head control. [austinpublishinggroup.com]

Treatment There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. [ninds.nih.gov]

Management and treatment Treatment is palliative and includes pharmacologic treatment of spasticity and seizures, oral or intrathecal baclofen for those with significant dystonia, physiotherapeutic treatment of spasticity and measures such as gastric [orpha.net]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]

Treatment Early detection is key in RSD treatment. The earlier you’re able to catch it, the better your treatment will work. Some cases of RSD don’t respond to treatment. [webmd.com]

Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. [ninds.nih.gov]

[…] spasms, parkinsonism neuropsychiatric optic atrophy retinal degeneration Radiographic features will vary among the various entities, but can broadly be thought of as 3 : basal ganglia signal abnormalities cerebellar and cerebral atrophy Treatment and prognosis [radiopaedia.org]

Prognosis The progression of classic INAD is usually rapid and many children never learn to walk. Severe spasticity, progressive cognitive decline and visual impairment can result in a vegetative state. [orpha.net]

There are atypical forms of INAD that have been recognized with onset as late as the teen-aged years; this is an even rarer condition and the prognosis or life span is not known. [raregenomics.org]

Neurologie 2004 The outstanding neuropathologic findings are axonal swellings which are most numerous in the dorsal regions of the medulla oblongata which are possible evidence of a common pathogenesis of the underlying disorder in both groups, whose etiology [semanticscholar.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Treatment: Due to lack of knowledge about etiology no specific treatment is available. A Rehabilitation program including physiotherapy and orthopedic management might be helpful and should be started early in the course of the disease. [medigoo.com]

Continuous EEG monitoring in comatose intensive care patients: epileptiform activity in etiologically distinct groups. Neurocrit Care. 2005. 2(1):5-10. [Medline]. Kameda K, Itoh N, Nakayama H. [medscape.com]

[…] dystrophy (NAD) aceruloplasminaemia COASY protein-associated neurodegeneration (COPAN) fatty acid hydroxylase-associated neurodegeneration (FAHN) Kufor-Rakeb syndrome neuroferritinopathy Woodhouse-Sakati syndrome No single demographic is affected, and epidemiology [radiopaedia.org]

Summary Epidemiology Prevalence is unknown, but more than 150 cases have been described, of which the majority are classic INAD. [orpha.net]

Epidemiologic trends in neonatal intensive care, 2007–2012. JAMA Pediatr. 2015;169(9):855–62. 21. Al-Wassia H, Saber MJAoSm. [ojrd.biomedcentral.com]

While understanding the pathophysiological mechanisms of PLA2G6-associated neurodegeneration is providing promising therapeutic strategies, the involvement of other cell types within the nervous system is not yet established and may be of pathophysiological [brain.oxfordjournals.org]

Pathophysiology [ edit ] Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making an enzyme called an A2 phospholipase. [en.wikipedia.org]

Currently no effective treatment isavailable.Therapeuticapproach involves treatment of manifestations for spasticity and seizures, control of secretions, prevention of aspiration pneumonia by feeding modifications, psychiatric support, prevention of secondary [scielo.mec.pt]

[…] and/or stool softener treatment for constipation Control of secretions and excess drooling with transdermal scopolamine patch or other treatments (as needed) Early physical therapy and orthopedic management to prevent contractures Periodic testing of [nbiacure.org]

INAD is caused by an abnormal build-up of substances in the nerves throughout the brain and body, which prevents them from working properly. [onlymyhealth.com]

Treatment is palliative and includes pharmacologic treatment of spasticity and seizures, oral or intrathecal baclofen for those with significant dystonia, physiotherapeutic treatment of spasticity and measures such as gastric feeding tube or tracheostomy to prevent [orpha.net]

INAD is caused by an abnormal build-up of substances in the nerves throughout the brain and body, which prevents them working properly. [gofundme.com]