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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
1a,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
2c,d M 1 13 20 eowg + 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
3c,d F 1 12 20 eowg + Normal (8.1) Gowers Heel strike (4.0) Mid/forefoot Normal Normal Normal Normal
4c,d M 0 10 20 eowg + 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
5c,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
6d F 0 6 40 /w + Normal Normal Heel strike (4.8) Mid/forefoot Normal Normal Normal Normal
7d F 5 6 40 /w + Normal Normal Heel strike (3.6) Mid/forefoot Normal Normal Normal Normal
8d 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
10e M 6 5 40 /wh – Gowers (2.5) Pull to stand Mid/forefoot Mid/forefoot Normal Normal Normal Normal
11c M 2 4f 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
12e F 4 4 40 /wh + Normal Normal Heel strike Heel strike Normal Normal Normal Normal
13e M 3 4 40 /wh + Normal (2.6) Gowers Mid/forefoot Mid/forefoot Normal Normal Normal Normal
14 F 3 3 40 /wh + 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 /wh – Normal Normal Heel strike Heel strike Normal Normal Normal Normal
Median 3 6           
  1. 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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172