Clinical features of patients with immunohistochemical abnormalities of laminin α2: review of 248 reported cases2-150
| Clinical feature | No of cases (where reported) | Frequency range | Our series | Cases with mutations identified2-151 | |||||
|---|---|---|---|---|---|---|---|---|---|
| % (n=248) | % (where reported) | ||||||||
| Presentation | |||||||||
| Birth–6 months | 219/248 | 88 | 88 | 2/5 | 50/54 | ||||
| 7 months–2 years | 19/248 | 8 | 8 | 2/5 | 2/54 | ||||
| >2 years | 7/248 | 3 | 3 | 1/5 | 2/54 | ||||
| Asymptomatic | 3/248 | 1 | 1 | 0/5 | 0/54 | ||||
| Walking independently | |||||||||
| Not walking by 2 years | 95/127 | 40 | 75 | 3/5 | 49/54 | ||||
| Walking by 2 years | 11/127 | 5 | 9 | 2/5 | 2/54 | ||||
| Learnt to walk after 2 years | 16/127 | 7 | 12 | 0/5 | 3/54 | ||||
| Walk ?age | 5/127 | 2 | 4 | 0/5 | 0/54 | ||||
| Progression of weakness | |||||||||
| Improving | 4/25 | 2 | 16 | 0/5 | — | ||||
| Static | 8/25 | 3 | 32 | 5/5 | — | ||||
| Slowly progressive | 13/25 | 5 | 52 | 0/5 | — | ||||
| Rapidly progressive | 0/25 | 0 | 0 | 0/5 | — | ||||
| Creatine kinase | |||||||||
| <1000 U/l | 24/124 | 10 | 19 | 0/5 | 3/27 | ||||
| >1000 U/l | 100/124 | 42 | 81 | 5/5 | 24/27 | ||||
| MRI | |||||||||
| “Typical” white matter changes | 156/175 | 63 | 90 | 4/5 | 33/38 | ||||
| Neuronal migration defect | 9/175 | 4 | 5 | 1/5 | 1/38 | ||||
| Normal | 10/175 | 4 | 6 | 0/5 | 4/38 | ||||
| Mental retardation | |||||||||
| Normal intellect | 121/138 | 49 | 88 | 2/5 | 43/48 | ||||
| Mild | 8/138 | 3 | 6 | 1/5 | 3/48 | ||||
| Moderate | 3/138 | 1 | 2 | 1/5 | 1/48 | ||||
| Severe | 6/138 | 2 | 4 | 0/5 | 1/48 | ||||
| Seizures | 19/97 | 8 | 20 | 1/5 | 5 | ||||
| Cardiac involvement | 7/20 | 3 | 35 | 0/1 | 0 | ||||
↵2-150 References 4, 5, 6, 7, 9, 11, 12, 13, 14, 15, 16, 18, 20, 21,22, 23, 24, 25, 26, 27, 29, 30, 31, 32, 33, 34, 35, 36, 44, 48, 50, 52,57, 58, 59, 61, 62, 63, 64, 65, 66, 67.
↵2-151 Figures are expressed as a proportion of those in which the feature is specifically reported. Progression of weakness was not specifically reported.