Table 2.

Main clinical features of the audited distal myopathy cohort.

Group	Onset years median (range)	% patients with a genetic diagnosis (n)	Genes identified (n)	Muscle involvement other than distal weakness (n)	Ambulation (n)	Predominant muscle pathology (N/total patients biopsied)
Childhood (0–10 years) n = 6	4 (0–8)	50% (3)	MYH7 (3)	Proximal weakness (2)	Independent (4) walking aids (1) wheelchair (1)	Fibre type disproportion (1/4), ring binden (1/4), core fiber (1/4), mild myopathic (1/4)
Juvenile/adult (10–39) n = 15	22 (16–37)	46.7% (7)	DYF (5) DES (1) GNE (1)	Proximal weakness (5) Ptosis (2) Laryngeal involvement (2)	Independent (14) wheelchair (1)	Rimmed vacuoles (3/14), nemaline bodies (2/14), myofibrillar myopathy (2/14), myopathic with pathological immunostaining for dysferlin (4/14), vacuoles with fibrillar material (1/14), angular fibers (1/14), no abnormalities (1/14)
Late onset (≥40) n = 17	53 (40–68)	29.4% (5)	MYOT (4) GNE (1)	Proximal weakness (6)	Independent (9) walking aids (5) wheelchair (3)	Rimmed vacuoles (3/16), myofibrillar myopathy (6/16), core fiber (2/16), mild myopathic (2/16), dystrophic process (1/16), no abnormalities (1/16), end stage myopathic (1/16)

The patients are grouped based on age of onset (1).