Nephropathic cystinosis: clinical features
Evidence-based neurology checklist on nephropathic cystinosis: clinical features: Neurological features Distal muscle weakness and wasting Dysphagia Facial weakness Contractures Bradykinesia Dementia Spasticity Idiopathic intracranial hypertension (IIH) Restrictive respiratory dysfunction Chiari…
Neurological features
- Distal muscle weakness and wasting
- Dysphagia
- Facial weakness
- Contractures
- Bradykinesia
- Dementia
- Spasticity
- Idiopathic intracranial hypertension (IIH)
- Restrictive respiratory dysfunction
- Chiari malformation
- Hydrocephalus
- Cerebral atrophy
Renal features
Metabolic features
Ophthalmic features
Complications
References
- 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.
- 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.
- Fink JK, Brouwers P, Barton N, et al. Neurologic complications in long-standing nephropathic cystinosis. Arch Neurol 1989; 46:543-548.
- Anikster Y, Lacbawan F, Brantly M, et al. Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 2001; 119:394-401.
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