From: Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
1 | 2 | 3 | 4 | 5 | 6 | |
---|---|---|---|---|---|---|
Age (y)/sex | 58/F | 34/F | 32/M | 27/F | 44/F | 65/M |
Onset age (y) | 48 | 22 | childhood | 26 | 6 | 62 |
Initial symptoms | weakness in LE | muscle crampi in LE | - | paraesthesia in LE | foot deformities | gait ataxia |
Motor | ||||||
UE | 0 | 0 | 0 | 0 | 2+ | 0 |
LE | 2+ | 2+ | 2+ | 2+ | 3+ | 2+ |
Sensory | ||||||
pain/touch | 1+ | 1+ | 0 | 0 | 2+ | 2+ |
deep sense | 2+ | 1+ | - | 1+ | 2+ | 2+ |
Reflexes | normal in UE, decreased (knee), absent (ankle) | normal in UE, absent (knee, ankle) | normal in UE, absent (ankle) | normal in UE, absent (knee, ankle) | decreased in UE, absent (knee, ankle) | normal in UE, absent (knee, ankle) |
Pes cavus/varus | yes | yes | yes | yes | yes | yes |