Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Table 1 Main demographic and clinical data of GSD II sibling s

	II-1	II-4	II-5	II-6	II-7	II-8	II-9	II-10	II-12	II-13
Sex	M	F	F	M	M	F	M	M	F	M
Age 1	56	50	53	54	40	47	38	-	39	35
Age 2	66	59	57	57	53	51	50	-	44	42
MMT-MRC (%)	94	79	82	97	76	86	74	100	78	75
GSGCA(X/27)	25	12	12	25	7	9	9	26	8	6
6MWT (m)	580	297	225	600	324	325	254	610	268	254
CK	170	404	255	140	582	565	404	110	353	887
FVC %	12,8	35	46	11	17	18	20	8	21	18
DBS	3.95	2.70	0.12	4.1	0.11	0.04	0.09	20	0.12	0.31
Muscle GAA		4.2	2.5		2.6	2.3	2.4		2.5	3.1
Cereb.Anom.	+	+	+	+	+	ND	+	-	+	+

The ID number of the patients was relative to the pedigree showed in Figure 2. Age 1: Age at first symptoms (years); Age 2: Age at diagnosis (years); MMT-MRC (%): manual muscle testing (MMT) using the MRC (Medical Research Council) grading scale; GSGCA: Gait, Stairs, Gowers, Chair, Arms; MWT: six-min walk test; CK: creatine kinase (50–190 U/L); FVC %: forced vital capacity (drop from sitting to supine); DBS: GAA activity (1,86-21,9 mol/h/l; Muscle GAA: GAA activity in muscle tissues (34 – 138 pmol/min/mg protein); CA: Angio MR cerebral anomalies.
With + is indicated the presence of anomalies; with - is indicated the absence of anomalies; ND: not determinate.

ISSN: 1750-1172