| Phenotype details |
progressive disease; delayed motor development, walk-18m; motor neuropathy (predominant), sensory neuropathy; predominant demyelinating neuropathy with intermediate type, axonal neuropathy; no sensory loss; diminished biceps reflex, diminished patellar reflex, diminished achilles reflex; no spasticity; upper limb proximal muscle weakness shoulder and elbow extension, otherwise normal (5/5); upper limb distal muscle weakness handwriting problems, otherwise stable; lower limb proximal muscle weakness hip abduction, hip flexion; foot dorsiflexion (4-/5), di-fficulties standing on heels; no upper limb muscle atrophy proximal/no distal; lower limb muscle atrophy distal, not proximal; upper limb motor nerve distal motor latency prolonged median 5.5 ms, nerve conductance velocity reduced, median 33 m/s, compound muscle action potential reduced, median 1.2 mv ; upper limb sensory nerve reduced, median snap (3.5 mv), ncv (21 m/s); lower limb motor nerve distal motor latency prolonged, tibial 5.2 ms, nerve conductance velocity reduced, tibial 23 m/s, compound muscle action potential reduced, tibial 3.5 mv; lower limb sensory nerve no response; MRI brain normal, MRI spine normal; no seizures, EEG normal; no intellectual disability; no dysmorphism; achilles tendon retraction; recurrent mild haemolytic anaemia, no hypertrophic nerves in nervesonography |
