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ALS

(Amyotrophic Lateral Sclerosis)

ALZHEIMER’S Dementia (and other dementias)

AUTISM (and other spectrum disorders)

CEREBRAL PALSY

CTE (Chronic Traumatic Encephalopathy)

EPILEPSY (and other seizure disorders)

HUNTINGTON’S DISEASE

MS (Multiple Sclerosis)

PARKINSON'S DISEASE

PERIPHERAL NEUROPATHIES

SPASTICITY

TERMINAL CANCER

SEE MORE CONDITIONS BELOW!

• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

• 5-aminoimidazole-4-carboxamide ribonucleotide transformylase deficiency

A

• Adenylosuccinate synthase Deficiency

• Alexander disease

• Alpers-Huttenlocher syndrome

• Amyloidoses

• Argyrophilic Grain Disease

• Aromatic L-amino acid decarboxylase deficiency

• Asparylglucosaminuria

• Ataxia neuropathy spectrum

B

• Bidirectional enzyme deficiency

• Biopterin Defects

C

• Canavan disease

• Central Core

• Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy

• Charcot Marie Tooth and related hereditary neuropathies

• Childhood Myocerebrohepatopathy spectrum

• Congenital Disorders of Glycosylation

• Corticobasal Degeneration

• Creatine Disorders

• Creatine Transporter Defect, also known as SLC 6A8

• Creutzfeldt-Jakob Disease

D

• Dementia with Lewy Bodies

• Deoxyguanisine kinase deficiency

• Dihydropirimidinase Deficiency

• Dihydropteridine reductase

• Dihydropyrimidine dehydrogenase Deficiency

• Duchenne Muscular Dystrophy

F

• Facioscapulohumeral Muscular Dystrophy

• Familial or Sporadic Fatal Insomnia

• Familial Spastic Paraplegia

• Farber Disease

• Fatty Acid Oxidation

• Freidreich’s Ataxia

• Frontotemporal dementia and parkinsonism linked to chromosome 17 caused by mutations in MAPT gene

• Frontotemporal Lobar Degeneration

G

• Galactosemia

• Galactosialidosis

• Gaucher Type 2 and Type 3

• Gerstmann-Straussler-Scheinker Disease

• Globular Glial Tauopathy

• Glutaric acidemia type 1

• Glycine encephalopathy, also known as non-ketotic hyperglycinemia

• Glycogen Storage-Lysosomal: Pompe Disease

• GM1 gangliosidosis

• GM2 gangliosidosis also known as Tay-sachs and Sandhoff Disease

• Guanidinoacetate methytransferase deficiency

• Guanosine triphosphate cyclohydrolase deficiency

H

• Homocysteine re-methylation defects

• Hypoxanthine-guanine phosophoribosyltransferase Deficiency also known as Lesch-Nyhan disease

K

• Kearn Sayers Syndrome

• Krabbe

• Kuru

L

• L-2-hydroxyglutaric aciduria

• L-Arginine/glycine amidinotransferase deficiency

• Leukodystrophy

• Lewy Body Disorders

• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

• Lysosomal Storage Diseases

M

• Mannosidosis

• Manosidosis alpha and beta

• Maple Syrup Urine Disease

• Metachromatic leukodystrophy

• Metal Metabolism

• Methylenetetrahydrofolate reductase deficiency severe variant

• Mitochondrial Conditions

• Mitochondrial Depletion syndromes types 1 through 14

• Mitochondrial Encephalopathy Lactic Acidosis Stroke

• Mitochondrial Encephalopathy Ragged Red Fiber

• Mitochondrial neurogastrointestinal encephalopathy

• Monoamine oxidase deficiency

• Motor Neuron Disease

• Mucolipidoses

• Mucolipidoses Type II, also known as Inclusion Cell disease

• Mucolipidoses Type III, also known as pseudo-Hurler polydystrophy

• Mucopolysaccaridosis

• Mucopolysaccharidosis Type I, also known as Hurler Syndrome or Scheie Syndrome

• Mucopolysaccharidosis Type II, also known as Hunter Syndrome

• Mucopolysaccharidosis Type III, also known as Sanfilippo A and B

• Mucopolysaccharidosis Type IV, also known as Maroteaux-Lamy

• Mucopolysaccharidosis Type VII, also known as Sly

• Multiple Sulfatase deficiency

• Multiple System Atrophy

• Muscular Dystrophies

• Myoclonic epilepsy myopathy sensory ataxia

N

• Neimann Pick Type A and B

• Neimann Pick Type C

• Neonatal Adrenoleukodystrophy

• Neurodegeneration with brain iron accumulation

• Neurofibrillary Tangle dementia, also known as Primary Age-related Tauopathy

• Neuronal ceroid lipofuscinosis types 1-10 including Batten Disease

• Neuropathy, Ataxia, and Retinitis Pigmentosa

• Neurotransmitter defects

O

• Oligosaccharidoses

P

• Pantothenate Kinase Associated Neurodegeneration

• Pelizaeus-Merzbacher disease

• Peripheral neuropathy types 1 through 4

• Peroxisomal biosynthesis defects

• Peroxisomal Disorders

• Pick Disease

• Polymerase G Related Disorders

• Polyol disorders

• Primary Lateral Sclerosis

• Prion Diseases

• Progressive Choreas

• Progressive dystonias DYT genes 1 through 20

• Progressive Muscular Atrophy

• Progressive Supranuclear Palsy

• Pterin-4-carbinolamine dehydratase

• Purine and Pyrimidine Defects

• Pyruvate Carboxylase Deficiency

• Pyruvate Dehydrogenase Deficiency

• Pyruvoyl-tetahydropterin synthase

R

• Refsum Disease

• Respiratory chain disorders complex 1 through 4 defects: Co Q biosynthesis defects

• RRM2B-related mitochondrial disease

S

• Salidosis

• Schindler

• Segawa Diease, also known as Dopamine Responsive Dystonia

• Sepiapterin reductase

• Sialidosis

• Sphingolipidoses

• Spinal Muscular Atrophy

• Spinal-bulbar muscular atrophy

• Spinocerebellar ataxia

• Subacute necrotizing encephalopathy, also known as Leigh syndrome

• SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

• Synucleinopathies

T

• Tauopathies

• Thymidine Kinase

• Transactive response DNA-binding protein-43 (TDP-43) Proteinopathies

• Trifunctional protein deficiency

V

• Vascular dementia

W

• Wilson Disease

X

• X-linked adrenoleukodystrophy

Z

• Zellweger syndrome