MSA MIMICKING
DISORDERS

GENETIC MSA-MIMICKING DISEASES, SUBTYPES & OTHER DISORDERS

Ataxia

  • 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 Ataxia

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)

Interdisciplinary Rehabilitation Center (IRC)

117628, Moscow, Starobittsevskaya St 23, building 2

 

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