Comparison of clinical features in the present cases and previous cases of PROMM with leukoencephalopathy reported by Hund et al13
Clinical features | Present cases | Previous cases (n=6) with leukoencephalopathy | |||
---|---|---|---|---|---|
1-1 | 2-1 | 2-2 | |||
Age (y) | 49 | 28 | 17 | 33-62 | |
Age at onset | 34 | — | — | 3-6th decades | |
Weakness | Moderate | Mild | Mild | Mild to severe | |
Muscular hypertrophy | Yes | Yes | Yes | Not reported | |
Myotonia (clinical) | Mild | Mild | Mild | Mild | |
Cataracts | Yes | No | No | Yes | |
White matter changes | Yes | No | No | Yes | |
IQ | 76 | NT | NT | NT |