Degenerative & auto-immune Conditions
Parkinsons
Eaton Lambert syndrome
- a neuromuscular junction disorder which may present as a paraneoplastic phenomenon or a primary autoimmune disorder
- antibodies against presynaptic voltage-gated calcium channels
- ~60% associated with underlying tumour, mostly small cell lung cancer, and may precede Dx of malignancy by >5years
- muscle weakness is primary symptom esp of prox leg muscles and is usually of prox to distal, caudal to cranial distribution & symmetrical. Post-exercise facilitation is common (return of reflexes and muscle strength post exercise)
- Cranial Nerve involvement in >75% with oculobulbar weakness prominent
- autonomic involvement in >80%
- similar to Myasthenia Gravis but distinguished by - areflexia, autonomic dysfunction and the phenomenon of post-exercise facilitation
Management
- primarily of underlying malignancy - CT Ix 1st and PET scan if -ve
- Acetylcholinesterase inhibitors for muscle weakness may help
https://www.ncbi.nlm.nih.gov/books/NBK507891/Eaton Lambert review 22
PSP (Progressive Supra-Nuclear Palsy)
otherwise known as Steele-Richardson-Olszewski Syndrome condition
- progressive impairment of balance and walking
- impaired eye movement, especially in the downward direction
- abnormal muscle tone (rigidity)
- speech difficulties (dysarthria)
- problems related to swallowing and eating (dysphagia)
- frequently experience personality changes and cognitive impairment.
Spinocerebellar Ataxia
https://www.ncbi.nlm.nih.gov/books/NBK557816/spinocerebellar ataxia review 2022
https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/