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Table 1 Summary of the features of previously published cases of Ullrich congenital muscular dystrophy and the present study

From: A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

 

(Present study, 2019) Sri Lanka

(Nadeau et al., 2009) United Kingdom [9]

(Bozorgmehr et al., 2013) Iran [10]

(Martoni et al., 2013) Italy [11]

(Park et al., 2014) Korea [12]

(Brinas et al., 2010) France [13]

(Pace et al., 2008) Australia [14]

(Nalini et al., 2009) India [15]

Gender

Male:Female

0:2

not recorded

Male: Female

5:1

Male:Female

2:0

Male:Female

0:1

Male: Female

24:25

Male: Female

6:2

Male: Female

8:1

Parental consanguinity

+ (2/2)

+ (3/13)

+ (6/6)

not recorded

+ (7/49)

not recorded

+ (7/9)

Clinical history / symptoms

 Prenatal reduction of fetal movements

not recorded

+ (2/6)

not recorded

not recorded

not recorded

not recorded

 Congenital contractures

not recorded

+ (3/6)

not recorded

+

+ (2/49)

+ (3/8)

+ (8/9)

 Difficulty in walking independently

+ (2/2)

+ (4/13)

+ (6/6)

+

+

+ (46/49)

+ (8/8)

+ (9/9)

 Delayed motor milestones

+ (2/2)

+ (11/13)

+ (6/6)

+

+

+ (49/49)

+ (8/8)

+ (9/9)

 Progressive increase in muscle weakness

+ (2/2)

+ (13/13)

+ (6/6)

+

+

+ (26/49)

+ (8/8)

+ (9/9)

Clinical examination

 Abnormal facies

not recorded

not recorded

not recorded

not recorded

not recorded

not recorded

+ (7/9)

 Joint contractures

+ (11/13)

+ (2/6)

+

+

+ (49/49)

+ (7/8)

+ (9/9)

 Bilateral proximal muscle weakness

+ (2/2)

+ (13/13)

+ (6/6)

+

+

+ (49/49)

+ (8/8)

+ (9/9)

 Gait abnormality/ inability to walk independently

+ (2/2)

+ (4/13)

+ (6/6)

+

+

+ (46/49)

+ (8/8)

+ (9/9)

 Spinal rigidity/scoliosis

+ (12/13)

+ (6/6)

+

+ (43/49)

+ (5/6)

+ (7/9)

 Hyperlaxity of distal joints

+ (2/2)

not recorded

+ (1/6)

+

+

+ (49/49)

+ (8/8)

+ (9/9)

 Absent/indistinguishable palmar creases/soft velvet palms

+ (2/2)

not recorded

not recorded

not recorded

+

not recorded

not recorded

+ (9/9)

 Atrophy of limbs with or without fasciculation

+ (2/2)

not recorded

not recorded

not recorded

+

not recorded

not recorded

+ distal muscles mainly

 Keloid formation

+ (3/13)

not recorded

not recorded

+

not recorded

+ (2/8)

not recorded

 Normal intelligence

+ (2/2)

+ (13/13)

+ (6/6)

not recorded

+

not recorded

not recorded

+ (9/9)

 Respiratory function abnormality

+ (13/13)

+ (1/6)

+

+ (35/49)

+ (3/8)

+ (2/9)

 Follicular hyperkeratosis

+ (8/13)

+ (1/6)

not recorded

not recorded

+ (22/49)

+ (7/8)

not recorded

Investigation findings

 EMG - short polyphasic motor unit action potentials

+ (1/2)

not recorded

+ (6/6)

not recorded

Both short and long polyphasic action potentials

not recorded

not recorded

not recorded

 Muscle biopsy - infiltration of adipose tissue, atrophic muscle fibers, angulated fibers

not recorded

not recorded

not recorded

not recorded

+

+ (49/49)

+ (7/8)

abnormal (9/9)

 Normal or mildly elevated CPK levels (normal 0–200 U/L)

Normal (1/2) mild elevation (1/2)

Ranged from normal to three times upper limit

Mild elevation (1/6)

Normal

Normal

Normal to four times upper limit

Normal (1/8)

Mild to three times upper limit (7/8)

Normal (7/9) Mild elevation (2/9)

Genetic variants involving COL6A1 gene

Homozygous missense variant (c.1667G > T|p.Gly556Val)

Heterozygous missense variants (c.841G > A, c.850G > A) in exon 9 and (c.868G > A) in exon 10

homozygous missense variant in exon 19

Heterozygous missense variant (intron 32c.2250 + 1 and exon 33 c.2331 Ins/Dup GCCT)

Heterozygous missense variant (c.904G > A| p.Gly302Arg);

homozygous silent variant (c.1095 T > C| p.Gly365=);

homozygous intronic variant (c.588 + 19dupC)

Homozygous and heterozygous COL6A1 exon 10 mutations (majority were missense variants)

Missense variant (G > T or G > A)

Possible heterozygous variant in COL6 gene

  1. +, present; −, absent; CPK Creatine kinase, EMG Electromyography