Qualifying Conditions

A
Adenylosuccinate synthase Deficiency
Alexander disease
Alpers-Huttenlocher syndrome
ALS (Amyotrophic Lateral Sclerosis)
Alzheimer’s Disease and other dementias
Amyloidoses
Argyrophilic Grain Disease
Aromatic L-amino acid decarboxylase deficiency
Asparylglucosaminuria
Ataxia neuropathy spectrum
Autism and other spectrum disorders

B
Bidirectional enzyme deficiency
Biopterin Defects

C
Canavan disease
Cancer
Central Core
Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy
Cerebral Palsy
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
CTE (Chronic Traumatic Encephalopathy)

D
Dementia with Lewy Bodies
Deoxyguanisine kinase deficiency
Dihydropirimidinase Deficiency
Dihydropteridine reductase
Dihydropyrimidine dehydrogenase Deficiency
Duchenne Muscular Dystrophy

E
Epilepsy

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
Huntington’s Disease
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
MS (Multiple Sclerosis)
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
Parkinson’s Disease
Pelizaeus-Merzbacher disease
Peripheral Neuropathies
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
PTSD
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 Disease, also known as Dopamine Responsive Dystonia
Sepiapterin reductase
Sialidosis
Spasticity
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