Case history
Case history #1
A 60-year-old man presents with right foot drop, which has developed gradually over the last year and progressed to involve more proximal areas in the last 2 months. The patient reports associated muscle twitching and painful muscle cramps involving the same areas. The neurological examination reveals bilateral lower-extremity weakness, more severe on the right, with associated spasticity, atrophy of the right foot intrinsic muscles, diffuse fasciculations, and hyper-reflexia, with deep tendon reflexes being brisker on the right lower extremity, and a positive right Babinski's sign. Sensation is preserved throughout. Several other family members have been diagnosed with ALS (some have died) with a pattern suggesting autosomal dominant disease.
Case history #2
A 65-year-old woman presents with progressive slurred speech with nasal quality, and episodes of choking on liquids, for the last 4-5 months. Neurological examination reveals facial and tongue weakness; tongue muscle wasting and fasciculations; dysarthria; hypophonic speech; and brisk reflexes throughout (including jaw jerk).
Other presentations
ALS may present as upper motor neuron (UMN)-dominant ALS, lower motor neuron (LMN)-dominant ALS, or bulbar-onset ALS. Patients may present with associated cognitive and behavioural impairment that may precede the onset of motor neuron disease symptoms or may become evident late in the disease course. Some of these patients have sufficient frontotemporal impairments to meet the criteria for dementia.[4][5] Patients may occasionally have associated extrapyramidal-type (parkinsonian) symptoms, such as rigidity, resting tremor, postural instability, bradykinesia, or bradyphrenia. They may also present with a combination of UMN and/or LMN symptoms and signs, extrapyramidal signs, and frontotemporal-type cognition deficit. Patients with typical ALS may develop associated autonomic symptoms, such as urinary urgency, constipation, and perspiration, later in the course of the disease.[6][7]
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