Symptoms include weakness and wasting of muscles of the hands, forearms, … Antiphospholipid syndrome. Rare neuroimmune disorders are immune-mediated disorders of the central nervous system (brain, spinal cord and optic nerves).The immune system is the body’s defense against foreign invaders, such as viruses and/or bacteria. Who discovered it? : 1999. This extremely rare degenerative brain disorder can occur spontaneously and can be either inherited or transmitted by contact with infected tissue. Aneurysm. This list includes the main name for each condition, as well as alternate names. Browse the GARD list of rare diseases and related terms to find topics of interest to you. : Dr. John W. Benton and Associates, Awareness: No known organization or awareness day, Treatment/Cure: Removal of the lesion can result in full recovery. 10 Rarest Weapons in Red Dead Redemption 2, National Institute of Neurological Disorders and Stroke, The International Rett Syndrome Foundation, is a juvenile form of a neurodegenerative disorder. Most of us can consider ourselves extremely lucky not to be afflicted with neurological disorders and this list of the rarest brain diseases sheds light on just how reliant we are on the proper functioning of our brains. In other words, the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscles. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
The most common of these infections are encephalitis and meningitis – pathogenic infection. Angelman Syndrome. In this chapter, we highlight the clinical and genetic features associated with the rare inherited forms of neurodegenerative diseases, including ataxias, multiple system atrophy, spastic paraplegias, Parkinson's disease, dementias, motor neuron diseases, and rare metabolic disorders. According to the National Institute of Neurological Disorders and Stroke, damage to the brain and the neurological system can wreak havoc on our fragile bodies. There are many recognized neurological disorders, some relatively common, but many rare. People with an autonomic disorder have trouble regulating one or more of these systems, which can result in fainting, lightheadedness, fluctuating blood pressure, and other symptoms. Autoimmune hepatitis. Mutations in three genes have been identified in families with early-onset AD: presenilin-1 (PSEN1), presenilin-2 (PSEN2) and amyloid precursor protein (APP). Sometimes the cause is unknown. The following list of medications are in some way related to, or used in the treatment of this condition. Absence of septum pellucidum. The word Kuru comes from a word meaning “to shake”, because people suffering from this disease will tremor and shake uncontrollably. For the latest updates on COVID-19, click or touch here. Central Cord Syndrome. Cantu Syndrome is usually inherited and can be diagnosed by genetic testing. Diseases in this list with a "C" are, therefore, actual autoimmune diseases, rather than comorbid symptoms, which appear after this list. Usually occurring from ages 20 to 60, Gerstmann–Sträussler–Scheinker Syndrome is a progressive condition that includes symptoms such as memory loss, visual disturbance, problems with speech, clumsiness, blindness, deafness and dementia. Cardiomyopathy cataract hip spine disease. The child will begin bobbing their head and shoulders repetitively, back and forth and/or side to side, usually with 2 – 3 bobs per second. … Causes of neurological disorders include genetics, injury and environment with symptoms ranging in severity from curable, to controllable, to life-threatening. Cardiomyopathy dilated with conduction defect type 1. These disease may be rare in the grand scheme of things, but to the people living with them, they’re much too common. This rare neurological disease is said to be like a spelling mistake in the genes, resulting in mutations, with less than 50 cases of Cantu Syndrome having been described in medical literature. Who discovered it? Other symptoms include difficulty walking and loss of control of bodily movement. In the above video, the Doctor mentions that in his decades of experience, this is the first time he’s encountered this disease, highlighting just how rare it really is. Guillain-Barré Syndrome. Headache. The autonomic nervous system regulates the function of the bodys internal organs, such as heart rate, blood pressure, digestion, and body temperature. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year. Physicians at NYU Langones Dysautonomia Center are experienced at recognizing the many types of autonomic disorders. Even after awareness spread and cannibalism declined, it took decades to see the final Kuru death, which was reported in the late 2000’s. Read on to learn more about the ten rarest brain diseases from around the world, and be thankful for every day that you wake up without them. Seizures. Aceruloplasminemia. A hereditary predisposition to the disease is believed to be the case 10% of the time, however the other 90% of the time, it’s just random and for no apparent reason. Anoxia. E: Disease is an autoimmune response triggered by a specific environmental factor. Rett Syndrome occurs in approximately 1 in every 10,000 births. It affects 2 to 3% of children with neuroblastoma. Abetalipoproteinemia. Friedreich's ataxia. Autoimmune encephalomyelitis. : Daniel Carleton Gajdusek, Treatment/Cure: None, other than ceasing to commit cannibalism. : Dr. Van der Knaap and his colleagues, Awareness: No known awareness day or organization, Treatment/Cure: No known treatments or cure. Acrocallosal syndrome, Schinzel type. Also called Frontotemporal Dementia, Pick’s disease is a rare type of dementia occurring in older adults, affecting the frontal lobe areas of the brain, which causes issues such as behavioral and speech problems, eventually leading to death. Cerebellar Hypoplasia. The International Rett Syndrome Foundation has a PSA that they play on TV and Radio and it has received over 300 million impressions, which helps them to connect to more families dealing with Rett, and to raise more awareness. With a hopeful eye towards the future discovery of a cure, scientists and doctors work tirelessly to alleviate and eradicate the symptoms and causes of these conditions, so it’s important to support these causes and to raise awareness. ABri amyloidosis. Spinal cord disorders cause various patterns of deficits depending on which nerve tracts within the cord or which spinal roots outside the cord are damaged. With symptom onset, affected This rare and terminal disease is a juvenile form of a neurodegenerative disorder that begins in childhood, causing issues with vision, learning, motor skills and seizures, along with grinding of the teeth, hyperventilation and decreased fat and muscle mass. Degenerative nerve diseases include. Our brains control everything we do, think and say, which flows on to how we perform and how we feel, so the fact that one in five of us will have some level of impairment throughout our lives is daunting, not to mention the unlikely threat from the rarest brain diseases. 13 Rare Genetic Disorders And How They Are Inherited - RankRed Unlike Alzheimer’s, memory loss is not associated with Pick’s disease, however, there have been cases where the patient has difficulty recalling names and/or words as well as paranoia, delusions and lack of empathy. : An international team of researchers, Awareness: September 30th is Microcephaly Awareness Day, Treatment/Cure: Therapy can be helpful but there is no known treatment or cure. Some neurological disorders in children develop due to postnatal infections. Amyotrophic lateral sclerosis. An extremely rare neurological disorder, Rett Syndrome usually exclusively affects females and has symptoms that include seizures, crying and screaming fits, repetitive hand movements, lack of speech and mobility as well as other sensory and gastrointestinal problems. “Seizures are episodes of abnormal electrical activity in the brain and we break the causes … If you aren’t a member of one of the families that is known to be vulnerable, you can breathe a sigh of relief, however for members of those families it must feel like a shadow that’s always following them around. Lewy body disease. The conditions can include dwarfism, seizures, poor motor functions, impeded speech and impaired intellectual capacity, affecting approximately 1 per 6200 to 8500 births around the world. Amyotrophic Lateral Sclerosis (ALS) Ataxia. With only 34 known cases since 1966, this disease is very rare and is caused by swelling and cystic lesions in the 3rd ventricle in the brain. RPI Deficiency is the rarest brain disease in the world, there are only 3 known cases historically, where the patients have what is called diffuse white matter abnormalities. The brain is the center of all neurological processing activity and can be affected by more than 600 known neurological disorders. Epilepsy and Seizures. Cerebellar Degeneration. F: Disease is only caused by autoimmunity in only a fraction of those who suffer from it. Caused by the under-development of the brain, this condition occurs at birth or in the first few years of life, resulting in a smaller head size and abnormal facial features. This can be a result from eating contaminated meat or infected tissue via transplant, with symptoms that can include depression, anxiety and memory loss, often ending with a lapse into coma. Cardiomyopathy and deafness due to tRNA lysine gene mutation. The mission of the CRND is to create new opportunities to improve the lives of those affected by rare, monogenic neurological disorders by building new alliances based on insights from biology, clinical unmet needs, and recent advantages in technology. Amyotrophic Lateral Sclerosis (ALS) Anencephaly. Huntington's disease. Cranioencephalic disorders. Parkinson's disease. Appearing in infancy, this condition is not a degenerative disorder and is often confused with Autism or Cerebral Palsy. Acrofacial dysostosis Rodriguez type. Canavan Disease. Ardila & Otroski (2012), propose that Cranioencephalic disorders (TBI) … Dementia and premature death are the eventual results of Batten Disease, which is caused by genetic mutations that affect the cells’ ability to eliminate waste. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external), If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, 2-methylbutyryl-CoA dehydrogenase deficiency, 3-alpha hydroxyacyl-CoA dehydrogenase deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, Adenosine monophosphate deaminase 1 deficiency, Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus, Alopecia epilepsy oligophrenia syndrome of Moynahan, Alopecia, epilepsy, pyorrhea, mental subnormality, Alopecia-contractures-dwarfism-intellectual disability syndrome, Alopecia-intellectual disability syndrome, Alpha-ketoglutarate dehydrogenase deficiency, Alpha-thalassemia x-linked intellectual disability syndrome, Early-onset, autosomal dominant Alzheimer disease, Alzheimer's disease without neurofibrillary tangles, Aminolevulinate dehydratase deficiency porphyria, Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, Anemia sideroblastic and spinocerebellar ataxia, Aniridia - ptosis - intellectual disability - familial obesity, Aniridia renal agenesis psychomotor retardation, Aortic arch anomaly - peculiar facies - intellectual disability, Aromatic L-amino acid decarboxylase deficiency, Arthrogryposis multiplex congenita, distal, X-linked, Arthrogryposis renal dysfunction cholestasis syndrome, Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay, Ataxia - hypogonadism - choroidal dystrophy, Autosomal dominant centronuclear myopathy, Autosomal dominant cerebellar ataxia, deafness, and narcolepsy, Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons, Autosomal dominant deafness-onychodystrophy syndrome, Autosomal dominant intermediate Charcot-Marie-Tooth, Autosomal dominant leukodystrophy with autonomic disease, Autosomal dominant neuronal ceroid lipofuscinosis 4B, Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant non-syndromic intellectual disability, Autosomal dominant optic atrophy plus syndrome, Autosomal dominant partial epilepsy with auditory features, Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1, Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive centronuclear myopathy, Autosomal recessive Charcot-Marie-Tooth disease with hoarseness, Autosomal recessive intermediate Charcot-Marie-Tooth disease, Autosomal recessive juvenile Parkinson disease, Autosomal recessive spastic paraplegia type 49, Autosomal recessive spinocerebellar ataxia 9, Behavioral variant of frontotemporal dementia, Benign familial neonatal-infantile seizures, Beta-Propeller Protein-Associated Neurodegeneration, Bilateral parasagittal parieto-occipital polymicrogyria, Biotin-thiamine-responsive basal ganglia disease, Brachydactyly-mesomelia-intellectual disability-heart defects syndrome, Brain dopamine-serotonin vesicular transport disease, Bullous dystrophy hereditary macular type, Camptodactyly arthropathy coxa vara pericarditis syndrome, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, Cerebellar hypoplasia tapetoretinal degeneration, Cerebellar hypoplasia with endosteal sclerosis, Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, Cerebral sclerosis similar to Pelizaeus-Merzbacher disease, Cervical hypertrichosis peripheral neuropathy, Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, Chronic progressive external ophthalmoplegia, Cleft palate short stature vertebral anomalies, COASY Protein-Associated Neurodegeneration, Congenital central hypoventilation syndrome, Congenital fibrosis of extraocular muscles, Congenital generalized lipodystrophy type 4, Congenital insensitivity to pain with anhidrosis, Congenital intrauterine infection-like syndrome, Congenital myasthenic syndrome with episodic apnea, Continuous spike-wave during slow sleep syndrome, Convulsions, benign familial infantile, 1, Corpus callosum agenesis double urinary collecting, Cortical blindness-intellectual disability-polydactyly syndrome, Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation, Cyprus facial neuromusculoskeletal syndrome, Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia, Dandy-Walker like malformation with atrioventricular septal defect, Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures, Dandy-Walker malformation with postaxial polydactyly, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Deafness, dystonia, and cerebral hypomyelination, Dihydrolipoamide dehydrogenase deficiency, Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita autosomal recessive, Early infantile epileptic encephalopathy 25, Early-onset parkinsonism-intellectual disability syndrome, Eosinophilic granulomatosis with polyangiitis, Epidermolysa bullosa simplex with muscular dystrophy, Epiphyseal dysplasia hearing loss dysmorphism, Facial onset sensory and motor neuronopathy, Fallot complex with severe mental and growth retardation, Familial congenital palsy of trochlear nerve, Familial encephalopathy with neuroserpin inclusion bodies, Familial focal epilepsy with variable foci, Familial hemophagocytic lymphohistiocytosis, Familial infantile convulsions and paroxysmal choreoathetosis, Fatty acid hydroxylase-associated neurodegeneration, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, Febrile infection-related epilepsy syndrome, Gamma aminobutyric acid transaminase deficiency, Glucose transporter type 1 deficiency syndrome, GOSR2-related progressive myoclonus ataxia, Guanidinoacetate methyltransferase deficiency, Hair defect-photosensitivity-intellectual disability syndrome, Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome, Hereditary diffuse leukoencephalopathy with spheroids, Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, Hereditary hemorrhagic telangiectasia type 2, Hereditary hemorrhagic telangiectasia type 3, Hereditary hemorrhagic telangiectasia type 4, Hereditary motor and sensory neuropathy type 5, Hereditary neuropathy with liability to pressure palsies, Hereditary proximal myopathy with early respiratory failure, Hereditary sensorimotor neuropathy with hyperelastic skin, Hereditary sensory and autonomic neuropathy type 1E, Hereditary sensory and autonomic neuropathy type 2, Hereditary sensory and autonomic neuropathy type 7, Hereditary sensory and autonomic neuropathy type V, Horizontal gaze palsy with progressive scoliosis, HTLV-1 associated myelopathy/tropical spastic paraparesis, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, Hydrocephalus-cleft palate-joint contractures syndrome, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency, Hyperphenylalaninemia due to dehydratase deficiency, Hypertrophic neuropathy of Dejerine-Sottas, Hypomyelination with atrophy of basal ganglia and cerebellum, Hypoparathyroidism-intellectual disability-dysmorphism syndrome, Hypospadias-intellectual disability, Goldblatt type syndrome, Ichthyosis alopecia eclabion ectropion mental retardation, Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, Infantile cerebellar retinal degeneration, Infantile choroidocerebral calcification syndrome, Infantile-onset ascending hereditary spastic paralysis, Intellectual deficit - short stature - hypertelorism, Intellectual disability - athetosis - microphthalmia, Intellectual disability - hypoplastic corpus callosum - preauricular tag, Intellectual disability-developmental delay-contractures syndrome, Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-spasticity-ectrodactyly syndrome, Intermediate congenital nemaline myopathy, Joubert syndrome with oculorenal anomalies, Keratosis follicularis dwarfism and cerebral atrophy, L-arginine:glycine amidinotransferase deficiency, Late-onset distal myopathy, Markesbery-Griggs type, Leber hereditary optic neuropathy with dystonia, Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia, Leukoencephalopathy - dystonia - motor neuropathy, Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Leukoencephalopathy with thalamus and brainstem involvement and high lactate, Macrocephaly-short stature-paraplegia syndrome, Macrothrombocytopenia progressive deafness, Male pseudohermaphroditism intellectual disability syndrome, Verloes type, Malignant hyperthermia arthrogryposis torticollis, Malignant migrating partial seizures of infancy, Mandibulofacial dysostosis with microcephaly, Marfanoid habitus-autosomal recessive intellectual disability syndrome, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome, Megaloblastic anemia due to dihydrofolate reductase deficiency, Megalocornea-intellectual disability syndrome, Mental retardation skeletal dysplasia abducens palsy, Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, Methionine adenosyltransferase deficiency, Methylmalonic acidemia with homocystinuria, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 2, Microcephalic primordial dwarfism Toriello type, Microcephalic primordial dwarfism, Montreal type, Microcephaly brain defect spasticity hypernatremia, Microcephaly cervical spine fusion anomalies, Microcephaly glomerulonephritis Marfanoid habitus, Microcephaly microcornea syndrome Seemanova type, Microphthalmia with linear skin defects syndrome, Minicore myopathy with external ophthalmoplegia, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA-associated Leigh syndrome, Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, Mitochondrial Membrane Protein-Associated Neurodegeneration, Mitochondrial myopathy and sideroblastic anemia, Mitochondrial myopathy with lactic acidosis, Mitochondrial neurogastrointestinal encephalopathy syndrome, Mitochondrial trifunctional protein deficiency, MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, Multiple congenital anomalies-hypotonia-seizures syndrome, Multiple congenital anomalies-hypotonia-seizures syndrome type 2, Multisystemic smooth muscle dysfunction syndrome, Muscular dystrophy white matter spongiosis, Muscular dystrophy, congenital, megaconial type, Musculocontractural Ehlers-Danlos syndrome, Myoclonic epilepsy with ragged red fibers, Neuropathy ataxia retinitis pigmentosa syndrome, Neuropathy, distal hereditary motor, Jerash type, Neuropathy, hereditary motor and sensory, Okinawa type, Neuropathy, hereditary motor and sensory, Russe type, Neutral lipid storage disease with myopathy, Orthostatic intolerance due to NET deficiency, Pachygyria-intellectual disability-epilepsy syndrome, Painful orbital and systemic neurofibromas-marfanoid habitus syndrome, Pantothenate kinase-associated neurodegeneration, Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections, Phosphoserine aminotransferase deficiency, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome, Posterior column ataxia with retinitis pigmentosa, Postnatal progressive microcephaly, seizures, and brain atrophy, Prader-Willi habitus, osteopenia, and camptodactyly, Primary angiitis of the central nervous system, Primary melanoma of the central nervous system, Progressive encephalomyelitis with rigidity and myoclonus, Progressive external ophthalmoplegia, autosomal recessive 1, Pterygium colli mental retardation digital anomalies, Pyridoxal 5'-phosphate-dependent epilepsy, Pyruvate dehydrogenase phosphatase deficiency, Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations, Reversible cerebral vasoconstriction syndrome, Rhizomelic chondrodysplasia punctata type 1, RRM2B-related mitochondrial DNA depletion syndrome, Scapuloperoneal syndrome, neurogenic, Kaeser type, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Severe intellectual disability-progressive spastic diplegia syndrome, Severe X-linked intellectual disability, Gustavson type, Short-chain acyl-CoA dehydrogenase deficiency, Shoulder girdle defect mental retardation familial, Shprintzen-Goldberg craniosynostosis syndrome, Slow-channel congenital myasthenic syndrome, Spastic paraplegia facial cutaneous lesions, Spastic paraplegia-epilepsy-intellectual disability syndrome, Spastic paraplegia-glaucoma-intellectual disability syndrome, Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spinal atrophy ophthalmoplegia pyramidal syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinocerebellar ataxia autosomal recessive 3, Spinocerebellar ataxia autosomal recessive 4, Spinocerebellar ataxia autosomal recessive 5, Spinocerebellar ataxia autosomal recessive 6, Spinocerebellar ataxia autosomal recessive 7, Spinocerebellar ataxia autosomal recessive 8, Spinocerebellar ataxia autosomal recessive with axonal neuropathy, Spinocerebellar degeneration and corneal dystrophy, Split hand urinary anomalies spina bifida, Succinic semialdehyde dehydrogenase deficiency, TANGO2-Related Metabolic Encephalopathy and Arrhythmias, Thoracic dysplasia hydrocephalus syndrome, White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome, X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis, X-linked intellectual disability - short stature – obesity, X-linked intellectual disability, Najm type, X-linked intellectual disability, Schimke type, X-linked intellectual disability, Siderius type, X-linked intellectual disability, Turner type, X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome, X-linked intellectual disability-plagiocephaly syndrome, X-linked lissencephaly with abnormal genitalia, X-linked myopathy with excessive autophagy, X-linked non-specific intellectual disability. 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