A 59 year old patient who has had difficulty walking for about a month. She presents weakness and pain in the lower limbs, which improves after stopping, sometimes accompanied by non-radiating back pain. She has noticed changes in her voice, becoming more dysphonic, which she relates to her work. In the anamnesis she did not report weakness in her hands or upper limbs. There was no eye or sphincter control disorder, nor was there any sensory disorder. No emotional lability was noted, although the patient already had an adjustment disorder after the death of his wife. He reports occasional cramps in twins. Personal history: hypertension and type 2 diabetes. Family history: paternal uncle died with a diagnosis of amyotrophic lateral sclerosis (ALS).
In the neurological examination he presented with hypophonic speech, centred facial expression. Normal internal and external ocular motility. Tongue twitching. No cervical weakness. Motor: lower limbs (lower limbs): paraparesis of proximal predominance 4/5. Dorsiflexion of both feet 5/5. No upper limb weakness. No sensory deficit. Osteo-tendon reflex (ROT) +++/+++ with bilateral Hoffmann positive and right cutaneous-plantar reflex indifferent, left preserved. Fasciculations in deltoid, pectoral and diffusely in MMII. Muscle atrophy in both quadriceps. General examination was unremarkable.
An ankle-brachial index (ABI) was performed: right 1.18; left 1.29. Laboratory tests were requested, with a CK of 232, immunological study and normal serology. Chest and lumbosacral X-ray normal. Following suspicion of motor neurone disease, the Internal Medicine department was consulted and requested an electromyogram (EMG)/electroneurography (ENG) suggestive of a neurogenic pattern with active denervation in both MMII, right upper limb (fibrillations and positive waves), compatible with motor neurone disease, probably ALS. With these results, the patient was referred to Neurology.
After assessment of the patient and with a diagnosis of probable ALS, according to the revised El Escorial criteria, and pending completion of the study with cranial-medullary magnetic resonance imaging and a new neurolophysiological study, treatment was started with Riluzole 50 mg, one tablet every 12 hours.
Due to the clinical evolution of the patient with proximal paraparesis in MMII, with significant muscle atrophy of both thighs, dysphagia for solids, without involvement of the upper limbs (MMSS) and correlated with the latest neurophysiological study, another possible diagnosis was considered, specifically myopathy. The EMG suggested myopathy with bulbar and pelvic girdle involvement (inclusion body myopathy), so a muscle biopsy was performed, the results of which were conclusive, ruling out the possibility of primary skeletal muscle disease and only showing changes secondary to denervation.
The patient subsequently presented with a progression of symptoms, showing weakness in dorsal flexion of the left foot (4/5). Incipient atrophy at the level of the fifth interosseous space of the left hand. Diffuse fasciculations in different body segments, as well as mild aphonia.
Finally, a diagnosis of motor neuron disease was suggested, probably ALS. Treatment was continued with Riluzole 50 mg. Speech therapy and physical and respiratory rehabilitation at home were recommended.
Five months after the definitive diagnosis, the patient developed septic shock of urinary origin and subsequent complications, requiring invasive mechanical ventilation (tracheotomy), percutaneous gastrostomy feeding (PEG) and secondary adaptive disorder, and was discharged home. Two months later, he presented with an exitus.