Multisystem proteinopathy: clinical features
Evidence-based neurology checklist on multisystem proteinopathy: clinical features: Neuromuscular features Proximal weakness Hyperlordosis Waddling gait Loss of balance Falls Camptocormia Scapula winging Fasciculations Muscle cramps Spasticity Myotonia Peripheral neuropathy (PN) Oculopharyngeal…
Neuromuscular features
- Proximal weakness
- Hyperlordosis
- Waddling gait
- Loss of balance
- Falls
- Camptocormia
- Scapula winging
- Fasciculations
- Muscle cramps
- Spasticity
- Myotonia
- Peripheral neuropathy (PN)
Oculopharyngeal features
Features of PDB
Other features
Associated cancers
Differential diagnosis
Synonym
References
- Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2000; 2:232-241.
- Roy B, Peck A, Evangelista T, et al. Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy. Ann Clin Transl Neurol 2023; 10:686-695.
- Kimonis VE, Mehta SG, Fulchiero EC, et al. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A 2008; 146A:745-757.
- González-Pérez P, Cirulli ET, Drory VE, et al. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 2012; 79:2201-2208.
- Guo X, Zhao Z, Shen H, Qi B, Li N, Hu J. VCP myopathy: a family with unusual clinical manifestations. Muscle Nerve 2019; 59:365-369.
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