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Those with a bulbar onset have a worse prognosis than limb-onset ALS; a population-based study found that bulbar-onset ALS patients had a median survival of 2.0 years and a 10-year survival rate of 3%, while limb-onset ALS patients had a median survival of 2.6 years and a 10-year survival rate of 13%. [52]
The patient's older brother, father, and paternal uncle had previously all died of ALS or an ALS type syndrome. The patient developed progressive bulbar palsy, became dependent on a respirator, and had two episodes of cardiac arrest. The patient died from pneumonia two years after the onset of the disease.
In ALS the main type of onset is bulbar followed by limb-onset ALS which describes the region of motor neurons first affected. [3] Individuals may also present with respiratory-onset ALS, [7] but this occurs very rarely. Since there are three different types of ALS, ALSFRS-R scores are often grouped in categories depending on type of onset. [7]
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Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
Differential diagnosis can be challenging due to the number of overlapping symptoms, shared between several motor neuron diseases. [14] Frequently, the diagnosis is based on clinical findings (i.e. LMN vs. UMN signs and symptoms, patterns of weakness), family history of MND, and a variation of tests, many of which are used to rule out disease ...
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