Case | Sex/age at onset (years) | Sensory dysfunction at presentation | Bulbar syndrome | Muscle wasting and weakness | Upper motor neurone signs | Disease duration (years) | Laboratory findings | Blink reflex | Electromyography and central motor conduction time (CMCT) | Response to treatment |
---|---|---|---|---|---|---|---|---|---|---|
1 | M 42 | Bilateral Trigeminal | Dysarthria, dysphonia and mild inspiratory stridor | Facial, neck, upper limb, lower limb | No | >10 | CK 758 IU/L Anti-MAG and antisulfatide antibody negative | Absent bilaterally | Widespread neurogenic changes with fasciculation in upper and lower limbs CMCT normal to hands but prolonged to feet | Subjective benefit initially but continued to progress |
2 | M 45 | None | Mild dysarthria and dysphagia | Facial, neck, upper limb | Yes Brisk knee reflexes with bilateral adductor jerks | >10 | CK 118 IU/L CSF IgG 32 mg/L (0–30) Anti-MAG and antisulfatide antibody negative | Delayed R2 responses bilaterally | Denervation in cervical and upper limb muscles with neurogenic changes and fasciculation CMCT normal | No intravenous immunoglobulin |
3 | M 53 | Right trigeminal | Dysphagia | Facial, neck, upper limb, lower limb | No | 1.5 | CK 894 IU/L CSF protein 484 mg/L Anti-MAG and antisulfatide antibody negative | Absent bilaterally | Widespread chronic partial denervation. Neurogenic changes orbicularis oculi | No improvement Progressed rapidly |
4 | M 64 | Bilateral trigeminal | None | Facial, upper limb, head drop but normal power | No | >6 | Anti-MAG and antisulfatide antibody negative | Delayed R2 responses bilaterally | Chronic partial denervation in all four limbs CMCT normal | No intravenous immunoglobulin |
5 | M 64 | Trigeminal, left worse than right | Dysarthria and dysphagia | Facial, neck | No | >10 | Anti-MAG and antisulfatide antibody negative | Absent bilaterally | Widespread chronic partial denervation | No intravenous immunoglobulin |
6 | M 66 | Bilateral trigeminal | Dysarthria and dysphagia | Facial, neck, upper limb, lower limb | No | 3 | Monoclonal gammopathy Anti-MAG and antisulfatide antibody negative | R1 and R2 components absent bilaterally | Widespread chronic partial denervation with fasciculation in the upper and lower limbs |
Anti-MAG, antimyelin associated glycoprotein; CK, creatine kinase; CSF, cerebrospinal fluid.