Nephropathic cystinosis: management
Evidence-based neurology checklist on nephropathic cystinosis: management: Nerve conduction studies (NCS): features Reduced motor unit amplitudes and duration Normal motor and sensory nerve conduction velocities Preserved sensory action potentials Muscle biopsy: features Brain autopsy: features…
Nerve conduction studies (NCS): features
- Reduced motor unit amplitudes and duration
- Normal motor and sensory nerve conduction velocities
- Preserved sensory action potentials
Muscle biopsy: features
Brain autopsy: features
Treatment
References
- Sadjadi R, Sullivan S, Grant N, et al. Clinical myopathy in patients with nephropathic cystinosis. Muscle Nerve 2020; 61:74-80.
- Charnas LR, Luciano CA, Dalakas M, et al. Distal vacuolar myopathy in nephropathic cystinosis. Ann Neurol 1994; 35:181-188.
- Vester U, Schubert M, Offner G, Brodehl J. Distal myopathy in nephropathic cystinosis. Pediatr Nephrol 2000; 14:36-38.
- Vogel DG, Malekzadeh MH, Cornford ME, Schneider JA, Shields WD, Vinters HV. Central nervous system involvement in nephropathic cystinosis. J Neuropathol Exp Neurol 1990; 49:591-599.
- Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 2007; 147:242-250.
