Table 1 Clinical manifestations of VCP MSP

Inclusion body myopathy

Muscle

Axial and proximal weakness progressing distally is most common, although presentations resembling facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, and distal myopathy have been described

~ 90%

Paget disease of bone (PDB)

Skeletal

Bone pain, bone deformities, pathological fractures, hearing loss

~ 40%

Frontotemporal dementia (FTD)

Cognitive

Rapidly progressive behavioral impairment, executive dysfunction, language impairment. Often associated with Parkinsonian features such as dystonia, tremor, gait disturbance

~ 30%

Respiratory dysfunction

Pulmonary

Recurrent respiratory infections, weak cough, aspiration, sleep disordered breathing, respiratory failure

40–50%

Amyotrophic lateral sclerosis (ALS)

Upper and lower motor neurons

Multifocal weakness, hyperreflexia and/or areflexia, atrophy, fasciculations, bulbar weakness, respiratory muscle involvement, weight loss

~ 10%

Parkinson disease (PD)

Central nervous system

Hypokinetic movement disorder, autonomic dysfunction, various non-motor features

4%

Alzheimer disease (AD)

Cognitive

Dementia with predominant amnestic and higher order cognitive dysfunction

2% [4]

Spastic paraplegia

Upper motor neurons

Length-dependent weakness, hyperreflexia, spasticity, clonus

Isolated cases

Sensorimotor neuropathy (axonal Charcot Marie Tooth disease (CMT))

Peripheral nerves

Length-dependent weakness, muscle atrophy and sensory loss. Trophic foot changes and distal areflexia

Isolated cases

Cardiomyopathy

Cardiac

Exertional shortness of breath, heart failure

Uncertain. Reported in case series

Dysphagia and dysarthria

Bulbar dysfunction

Impaired swallowing function, reduced speech volume and intelligibility

Uncertain

Urinary and anal incontinence

Genitourinary, gastrointestinal

Urinary incontinence, anal incontinence or dysfunction

Uncertain