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agenesis of the corpus callosum with peripheral neuropathy
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Childhood-Onset Neurodegeneration with Brain Atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Chronic Traumatic Encephalopathy
Corneal Cerebellar Syndrome
eye degenerative disease +
eyelid degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
Galloway-Mowat syndrome +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Huntington's disease-like 2
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
infantile cerebellar-retinal degeneration
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Mousa Al din Al Nassar Syndrome
multiple system atrophy +
Multiple System Atrophy (MSA) with Orthostatic Hypotension
myoclonic cerebellar dyssynergia +
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
neurodegeneration with brain iron accumulation +
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neuronal Intranuclear Inclusion Disease
olivopontocerebellar atrophy + A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
primary cerebellar degeneration +
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Spinocerebellar Ataxias +
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
striatonigral degeneration +
Subacute Combined Degeneration
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