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Autosomal dominant spastic paraplegia type 17

A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.

Small hand

Disproportionately small hand.

合計: 1

（表示件数）

PMID (PMCID)
21712667	MIXED_SAMPLE	Adult
	Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.
	Panas M, Karadima G, Kalfakis N, Vassilopoulos D. Neurologist. 2011;17(4):211-2.
	All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally.