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A 57-year-old woman presented with gait disturbance and falls. Two months before, she had first developed stiffness and painful spasms in her lower back and thighs. These sy7mptoms had worsened on trying to stand or walk, persisted while sleeping and progressed. She had no weakness, sensory loss or sphincter disturbance. There was no apparent infective trigger, no fever, weight loss, or other systemic symptoms. Over the previous year, she had been assessed for fatigue, dyspareunia, anxiety and insomnia. She smoked 10 cigarettes a day.
On examination, her mental status and cranial nerves were normal. She had normal muscle strength in all groups but there was axial and proximal stiffness in lower limbs, with spasms and delayed muscle relaxation after voluntary activation; the right leg was more affected than the left. Reflexes were globally exaggerated with both plantar responses flexor. There was no myotonia, fasciculation or other signs of spontaneous muscle activity. Extrapyramidal and cerebellar tests were normal. She reported mild allodynia wherever her body was rubbed, but there was no objective deficit or any sensory modality. Her gait was unstable with slow steps, extended legs, broad base, lumbar hyperlordosis and poor girdle swing.
WHAT SYNDROMIC, TOPOGRAPHIC AND AETIOLOGICAL DIAGNOSIS WOULD YOU CONSIDER?
This patient had a subacute-progressive gait disturbance due to axial and proximal lower limbs stiffness, associated with painful spasms and non-specific sensory symptoms. Her possible diagnoses (ordered by topography) included1 2:
Muscle and neuromuscular junction
This seems unlikely as it does not explain the sensory symptoms, and myotonic syndromes do not have such a subacute course.
With predominantly positive symptoms, we need to consider continuous muscular activity disorders such as neuromyotonia (Isaacs and Morvan syndromes; Morvan may present with sleep disorders but usually in the context of a progressive encephalopathy), cramp–fasciculation syndrome and Satoyoshi syndrome (very rare, it can occur in adults accompanied by baldness and diarrhoea, which this …
Contributors MR-O: Clinical assistance to the patient, literature review, drafting and coordination of the work and communication with editors. MD-S: Clinical assistance to the patient, literature review and drafting. FJA-D: Clinical assistance to the patient, literature review, and drafting. JFG-M, SM-G: Clinical assistance to the patient, literature review and supervision. RR-G: Immunological diagnosis and provided images. PC-C: Clinical assistance to the patient, literature review and main supervisor.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Consent obtained directly from patient(s).
Ethics approval As an anonymous retrospective clinical case, this work has not been evaluated by any ethical committee. Patient consent is provided.
Provenance and peer review Not commissioned. Externally peer reviewed by Emma Tallantyre, Cardiff, UK.
Data availability statement We are ready to provide all the clinical documentation requested during the review or after the eventual publication of the article.