Diseases That Mimic MSA
GENETIC MSA-MIMICKING DISEASES
SUBTYPES & OTHER DISORDERS
Ataxias
- ➤ Spinocerebellar Ataxias (Genetic Forms)
- ➤ Dentatorubral-pallidoluysian atrophy (DRPLA)
- ➤ fragile X-associated tremor/ataxia syndrome (FXTAS)
- ➤ Friedreich Ataxia (FRDA)
- ➤ Ataxia-oculomotor apraxia syndrome (AOA)
- ➤ Ataxia with vitamin E deficiency (AVED)
- ➤ Marinesco Sjogren syndrome (SIL1 mutation)
- ➤ Alexanders syndrome
Parkinsonism
- ➤ Perry syndrome
- ➤ Huntington’s disease
- ➤ Familial Parkinson’s Disease with the SNCA gene (FPD)
- ➤ Familial Parkinson’s Disease with the LRRK2 gene (FPD)
- ➤ Familial Parkinson’s Disease with the GBA gene (FPD))
- ➤ X-linked adrenoleukodystrophy (ABCD1 mutation)
Spastic Gait
- ➤ Hereditary Spastic Paraplegia (HSP)
- ➤ Hereditary Spastic Paraplegia Paraplegin (SPG7)
- ➤ Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum (SPG11))
- ➤ Primary Lateral Sclerosis (PLS))
Autonomic Failure
- ➤ LMNB1 associated Leukodystrophy
Complex Phenotypes
- ➤ Mitochondriopathy
- ➤ Cerebrotendinous xanthomatosis
- ➤ Prion disease
- ➤ C9ORF72 mutation
Other Disorders
Non-Acquired:
- ➤ Dementia with Lewy Bodies
- ➤ Progressive Supranuclear Palsy
- ➤ Parkinson’s Disease
- ➤ Pure autonomic failure (however there are some ideas that this entity is a spectrum)
- ➤ Corticobasal degeneration)
- ➤ Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)
- ➤ Vascular parkinsonism
- ➤ Normal pressure hydrocephalus
- ➤ Prion disorder (genetic or sporadic)
Acquired:
- ➤ Whipple’s disease
- ➤ Extrapontine myelinolysis
- ➤ Paraneoplastic cerebellar degeneration
- ➤ Alcoholic cerebellar degeneration
- ➤ Drug-induced cerebellar degeneration
- ➤ Gluten Ataxi)
Search Directory of Genetic and Rare Diseases Information Center (GARD) provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Alphabetical List of Rare Diseases National Organization of Rare Diseases (NORD ) Prepared By: Dr. Oybek E. Turgunkhujaev (Defeat MSA Consulting Neurologist – Movement Disorders) 117628, Moscow, Starobittsevskaya St 23, building 2
