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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:muscular_dystrophy
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gptkbp:abbreviation
|
SBMA
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gptkbp:affects
|
lower motor neurons
bulbar muscles
limb muscles
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gptkbp:affectsGender
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males predominantly
|
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gptkbp:alsoKnownAs
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gptkb:spinal_and_bulbar_muscular_atrophy
|
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gptkbp:category
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gptkb:neurodegenerative_disease
gptkb:motor_neuron_disease
|
|
gptkbp:causedBy
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mutation in the androgen receptor gene
|
|
gptkbp:diagnosedBy
|
genetic testing
clinical examination
|
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gptkbp:firstDescribed
|
gptkb:William_R._Kennedy
1968
|
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gptkbp:frequency
|
1 in 40,000 males
|
|
gptkbp:gene
|
gptkb:AR_gene
|
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gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
|
|
gptkbp:notableFeature
|
CAG trinucleotide repeat expansion
androgen insensitivity
|
|
gptkbp:onset
|
adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
normal life expectancy
|
|
gptkbp:progression
|
slowly progressive
|
|
gptkbp:symptom
|
tremor
muscle weakness
muscle cramps
gynecomastia
fasciculations
dysphagia
reduced fertility
|
|
gptkbp:treatment
|
supportive care
occupational therapy
physical therapy
speech therapy
|
|
gptkbp:bfsParent
|
gptkb:CAG
|
|
gptkbp:bfsLayer
|
7
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|
https://www.w3.org/2000/01/rdf-schema#label
|
Kennedy's disease
|