Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation
Table 1
Summary of the family history.
Family member
Scapuloperoneal syndrome, age of onset of significant symptoms
Pes Cavus
Reflexes
Dyspnea
Incontinence
CK elevated
EMG abnormal
Muscle biopsy
Dementia
Grandmother
50
Present
Brisk, ankle reflex absent
Neurogenic
Neuropathic and Myopathic
Present at old age per family but not formally tested
Father
40
Absent
Neurogenic
Neuropathic
Proband (confirmed by genetic testing)
50
Present
Normal
Present
Neurogenic
“Normal” initially but reread to suggest neuropathic