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
Proband’s brother #1	20		Absent	Present		Present		Neuropathic
Proband’s brother #2	30		Absent				Neurogenic	Myopathic
Proband’s daughter (confirmed by genetic testing)	Shoulder and neck pain, age 30
Proband’s niece (confirmed by genetic testing)	Shoulder and neck pain, age 40