Nervous System Diseases
The brain and nervous system form a delicate and intricate network of electrical signals that are responsible for coordinating every muscle movement you make, your senses, speech, memories, thoughts and emotions.
Many of the diseases of the nervous system can be caused by a single gene defect (change) or a more complex mode of inheritance.
As our understanding of the origin of neurodegenerative disorders is deepening and common themes are beginning to emerge. Take for instance our understanding of Alzheimer brain plaques and the common component found in inclusion bodies found in patients with Parkinson disease. Other diseases like Huntington disease, fragile X syndrome and spinocerebellar atrophy are all 'dynamic mutation' diseases in which there is a repeat of a DNA repeat sequence.
- 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
- Aarskog disease - See Aarskog syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome - See Aarskog syndrome
- AAS - See Aarskog syndrome
- acid maltase deficiency - See Pompe disease
- Acid spingomyelinase deficiency - See Niemann-pick types a/b
- Acute intermittent porphyria
- Acyl-coa dehydrogenase, short-chain, deficiency of
- Adrenoleukodystrophy
- AGL deficiency - See Glycogen storage disease type III
- AIC - See Aicardi syndrome
- Aicardi syndrome
- Aicardi's syndrome - See Aicardi syndrome
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alpha-thalassemia/mental retardation syndrome, x-linked
- Alzheimer disease
- Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type III
- Amyloidosis, hereditary, transthyretin-related
- Amyotrophic lateral sclerosis 1
- Andermann syndrome
- Andersen-tawil syndrome
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Arts syndrome
- ATTR - See Amyloidosis, hereditary, transthyretin-related
- Bannayan-Riley-Ruvalcaba syndrome
- Barth syndrome
- Biotinidase deficiency
- Bourneville disease - See Tuberous sclerosis
- Bronze Schilder Disease - See Adrenoleukodystrophy
- CADASIL
- CARASIL
- CDKL5 deficiency disorder
- CDKL5 encephalopathy - See CDKL5 deficiency disorder
- Cerebral sclerosis - See Adrenoleukodystrophy
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis, neuronal, 1
- Chromosome 17p13.3 deletion syndrome - See Miller-Dieker lissencephaly syndrome
- Chromosome 1p36 deletion syndrome
- Congenital insensitivity to pain
- Congenital toxoplasmosis
- Cori disease - See Glycogen storage disease type III
- Cornelia de Lange syndrome
- Cowden syndrome
- CTX - See Cerebrotendinous xanthomatosis
- Dihydrolipoamide dehydrogenase deficiency
- Dravet syndrome
- Epileptic encephalopathy, early infantile 2 - See CDKL5 deficiency disorder
- Fabry - See Fabry disease
- Fabry disease
- Familial TTR amyloidosis - See Amyloidosis, hereditary, transthyretin-related
- Forbes disease - See Glycogen storage disease type III
- Fragile X syndrome
- Friedreich ataxia
- Gaucher disease
- GLA deficiency - See Fabry disease
- Glutaric acidemia type 1
- Glutaric acidemia type 2
- glycogen storage disease II - See Pompe disease
- Glycogen storage disease IIIa - See Glycogen storage disease type III
- Glycogen storage disease IIIb - See Glycogen storage disease type III
- Glycogen Storage Disease IV
- Glycogen storage disease type III
- GSD 3 - See Glycogen storage disease type III
- GSD III - See Glycogen storage disease type III
- hATTR amyloidosis - See Amyloidosis, hereditary, transthyretin-related
- Homocystinuria
- Huntington's disease
- Incontinentia pigmenti
- LGMD - See Limb-girdle muscular dystrophy
- Li-fraumeni syndrome
- Limb-girdle muscular dystrophy
- LIS1-associated lissencephaly - See Miller-Dieker lissencephaly syndrome
- Lowe oculocerebrorenal syndrome
- Lysosomal acid lipase deficiency
- MDLS - See Miller-Dieker lissencephaly syndrome
- MDS - See Miller-Dieker lissencephaly syndrome
- Melanodermic leukodystrophy - See Adrenoleukodystrophy
- Miller-Dieker lissencephaly syndrome
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- MPS III - See Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type III
- multiple hamartoma syndrome - See Cowden syndrome
- Myotonic Dystrophy
- NCBRS - See Nicolaides-baraitser syndrome
- Neurofibromatosis, type II
- Nicolaides-baraitser syndrome
- Niemann-pick type c
- Niemann-pick types a/b
- Norrie disease
- Ornithine transcarbamylase (OTC) deficiency
- Paragangliomas
- Pitt-hopkins syndrome
- Pompe disease
- Rett syndrome
- Sandhoff disease
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- SCADD - See Acyl-coa dehydrogenase, short-chain, deficiency of
- Schilder disease - See Adrenoleukodystrophy
- Schilder-Addison Complex - See Adrenoleukodystrophy
- Scott Aarskog syndrome - See Aarskog syndrome
- Siemerling-Creutzfeldt Diease - See Adrenoleukodystrophy
- SMA - See Spinal muscular atrophy, type I
- SMA1 - See Spinal muscular atrophy, type I
- Smith-Lemli-Opitz syndrome
- Smith-magenis syndrome
- Sphingomyelinase deficiency - See Niemann-pick types a/b
- Spina bifida - hypospadias
- Spinal muscular atrophy, type I
- Tay-Sachs disease
- TT1 - See Tyrosinemia Type I
- Tuberous sclerosis
- Tyrosinemia Type I
- Ullrich congenital muscular dystrophy
- Von hippel-lindau syndrome
- Williams Syndrome
- Wilson disease
- X-linked adrenoleukodystrophy - See Adrenoleukodystrophy
