Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

van den Dorpel, J. J. A.; Poelman, E.; Harlaar, L.; van Kooten, H. A.; van der Giessen, L. J.; van Doorn, P. A.; van der Ploeg, A. T.; van den Hout, J. M. P.; van der Beek, N. A. M. E.

doi:10.1186/s13023-020-01482-w

Orphanet Journal of Rare Diseases

Table 1 Patient characteristics, development of proximal and distal muscle function

From: Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

		Age				Standing up		Foot dorsiflexion		Raising arms		Pincer grasp
Pt	Sex	Start ERT (months)	Current (years)	Start dose of ERT	CRIM status	Best achievement (years)*	Last visit	Best achievement (years)*	Last visit	Best achievement (years)*	Last visit	Best achievement (years)*	Last visit
1^a,b,c	M	4	18	15 /w [r]^g	+	Gowers (16.4)	Unable to stand up	Mid/forefoot (17.8)	Unable to walk	Normal (16.9)	Not able	Normal (16.9)	No pincer grasp
2^c,d	M	1	13	20 eow^g	+	Gowers (10.4)	Unable to stand up	Mid/forefoot (10.6)	Unable to walk	Normal (10.4)	Not able	Normal (5.1)	No pincer grasp
3^c,d	F	1	12	20 eow^g	+	Normal (8.1)	Gowers	Heel strike (4.0)	Mid/forefoot	Normal	Normal	Normal	Normal
4^c,d	M	0	10	20 eow^g	+	Gowers (2.7)	Unable to stand up	Mid/forefoot (2.7)	Unable to walk	Normal (7.5)	Not able	Normal (6.1)	No pincer grasp
5^c,d	F	2	8	40 /w	+	Gowers (6.0)	Unable to stand up	Mid/forefoot (6.4)	Unable to walk	Normal	Normal	Normal (7.1)	No pincer grasp
6^d	F	0	6	40 /w	+	Normal	Normal	Heel strike (4.8)	Mid/forefoot	Normal	Normal	Normal	Normal
7^d	F	5	6	40 /w	+	Normal	Normal	Heel strike (3.6)	Mid/forefoot	Normal	Normal	Normal	Normal
8^d	M	4	6	40 /w	+	Normal	Normal	Heel strike (5.0)	Mid/forefoot	Normal	Normal	Normal	Normal
9	M	5	5	40 /w	+	Gowers	Gowers	Mid/forefoot	Mid/forefoot	Normal	Normal	Normal	Normal
10^e	M	6	5	40 /w^h	–	Gowers (2.5)	Pull to stand	Mid/forefoot	Mid/forefoot	Normal	Normal	Normal	Normal
11^c	M	2	4^f	20 eow	–	Pull to stand (2.1)	Unable to stand up	Mid/forefoot (2.1)	Unable to walk	Normal (3.6)	Not able	Normal (3.1)	No pincer grasp
12^e	F	4	4	40 /w^h	+	Normal	Normal	Heel strike	Heel strike	Normal	Normal	Normal	Normal
13^e	M	3	4	40 /w^h	+	Normal (2.6)	Gowers	Mid/forefoot	Mid/forefoot	Normal	Normal	Normal	Normal
14	F	3	3	40 /w^h	+	Normal	Normal	Mid/forefoot	Mid/forefoot	Normal	Normal	Normal	Normal
15	F	2	3	40 /w	–	Normal (1.4)	Gowers	Mid/forefoot	Mid/forefoot	Normal	Normal	Normal	Normal
16	F	5	3	40 /w^h	–	Normal	Normal	Heel strike	Heel strike	Normal	Normal	Normal	Normal
Median		3	6

Pt Patient number, ERT enzyme-replacement therapy, CRIM cross reactive immunological material, F female, M male, /w per week, eow every other week, [r] recombinant enzyme from transgenic rabbits, switched to alglucosidase alfa at age 5.2 years. ^a-e Early motor development described before in: ^a van den Hout et al. 2000,^b van den Hout et al. 2004 ^c van Gelder et al. 2015, ^d van Gelder et al. 2016, ^e Poelman et al. 2018. ^f Age at death. ^g Dose was augmented to 40 mg/kg/week at 0.8, 5.5, 9.4 and 2.7 years for patient 1,2,3 and 4 respectively. ^h Primary immunomodulation. *Age at which best achievement was lost

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ISSN: 1750-1172

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