Table 1 Clinical features of patients with NEFH mutations
Family/Patient Gender/Age (years) | Age at onset (years) | Initial symptoms | Pattern of muscle weakness | Scoliosis | Sensory involvement | Pyramidal signs | Additional clinical signs | Ambulation | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
UL (prox) | UL (dist.) | LL (prox.) | LL (dist.) | UL | LL | |||||||
1 / II – 1 F/70 | 40 | Waling difficulties | ++ | ++ | +++ | +++ | − | + | + | Yes Brisk achilean reflexes | No | Bedridden |
1 / II – 5 M/68 | 38 | Walking difficulties | − | + | + | ++ | − | − | + | No Areflexia 4 limbs | No | Ambulant without help |
1 / III – 2 F/55 | 30 | Walking difficulties | − | − | ++ | ++ | − | − | + | No Achilles tendon areflexia | No | Ambulant without help |
1 / III – 3 F/51 | 15 | Feet dysesthesia Walking difficulties at age 27 | − | + | ++ | +++ | − | − | + | No | Hypophonia | Ambulant With a walker |
1 / III – 4 M/50 | 30 | Walking difficulties | − | ++ | + | ++ | − | − | + Vibration hypoesthesia | No | No | Ambulant without help |
I / III - 5 M/49 | 43 | Walking difficulties | − | + | + | + | − | − | + | No Achilles tendon areflexia | No | Ambulant without help |
1 / III - 6 F/46 | 40 | Walking difficulties | − | − | ++ | + | − | − | No | No LL areflexia | No | Ambulant without help |
1 / III - 7 F/44 | 34 | Walking difficulties | − | − | ++ | +++ | − | − | Distal pinprick hypoesthesia | Yes Spread of patellar reflexes | No | Ambulant with one can |
1 / IV - 1 M/23 | 15 | Running difficulties | − | − | − | + | − | − | − | Yes Brisk reflexes in 4 limbs | No | Ambulant without help |
1 / IV – 5 F/23 | − | Asymptomatic | − | − | − | − | − | − | − | No LL areflexia | No | Ambulant |
1 / IV - 6 M/17 | − | Asymptomatic | − | − | − | − | − | − | − | No Achilles tendon areflexia | No | Ambulant |
2 / II - 1 M/23 | 5 | Walking difficulties | + | + | ++ | +++ | + | − | + | No Areflexia | Gastroparesis | Ambulant without help |