Hereditäre Neuropathie mit Neigung zu Drucklähmungen (HNPP)

Abnormal pupil morphology|Abnormality of pain sensation|Abnormality of the immune system|Abnormality of the voice|Acroparesthesia|Action tremor|Acute demyelinating polyneuropathy|Anisocoria|Ankle weakness|Areflexia|Areflexia of lower limbs|Autosomal dominant inheritance|Autosomal recessive inheritance|Axonal loss|Babinski sign|Broad-based gait|Calf muscle hypertrophy|Calf muscle hypoplasia|Childhood onset|Clumsiness|Cold-induced muscle cramps|Cough|Cranial nerve paralysis|Decreased motor nerve conduction velocity|Decreased nerve conduction velocity|Decreased number of peripheral myelinated nerve fibers|Decreased sensory nerve conduction velocity|Decreased/absent ankle reflexes|Demyelinating peripheral neuropathy|Diaphragmatic weakness|Distal amyotrophy|Distal lower limb amyotrophy|Distal lower limb muscle weakness|Distal muscle weakness|Distal sensory impairment|Drooling|Dysesthesia|EMG: neuropathic changes|Equinovarus deformity|Exercise-induced myalgia|Foot dorsiflexor weakness|Frequent falls|Froment sign|Gait ataxia|Gait disturbance|Gait imbalance|Generalized hypotonia|Genu valgum|Global developmental delay|Hammertoe|Hand muscle atrophy|Hand muscle weakness|Hand paresthesia|Hearing impairment|Hyperactive deep tendon reflexes|Hypertrophic nerve changes|Hypoesthesia|Hyporeflexia|Hyporeflexia of lower limbs|Hyporeflexia of upper limbs|Hypotonia|Impaired distal vibration sensation|Impaired oropharyngeal swallow response|Impaired pain sensation|Impaired tactile sensation|Impaired temperature sensation|Impaired vibration sensation in the lower limbs|Impaired vibratory sensation|Inability to walk|Increased CSF protein concentration|Infantile onset|Insidious onset|Intrinsic hand muscle atrophy|Joint contracture of the hand|Juvenile onset|Kyphoscoliosis|Limb ataxia|Limb muscle weakness|Lower limb muscle weakness|Motor delay|Muscle spasm|Muscle weakness|Myelin outfoldings|Myelin tomacula|Nystagmus|Onion bulb formation|Paresthesia|Peripheral demyelination|Peripheral neuropathy|Peroneal muscle atrophy|Peroneal muscle weakness|Pes cavus|Pes planus|Postural instability|Postural tremor|Profound sensorineural hearing impairment|Proximal muscle weakness|Recurrent fever|Respiratory insufficiency|Scapuloperoneal weakness|Scoliosis|Segmental peripheral demyelination/remyelination|Sensorimotor neuropathy|Sensorineural hearing impairment|Sensory ataxia|Shoulder pain|Skeletal muscle atrophy|Sleepy facial expression|Slow pupillary light response|Slowly progressive|Somatic sensory dysfunction|Split hand|Spontaneous pain sensation|Steppage gait|Talipes calcaneovalgus|Talipes calcaneovarus|Talipes equinovarus|Thenar muscle atrophy|Thenar muscle weakness|Tinnitus|Tongue fasciculations|Tonic pupil|Tremor|Ulnar claw|Unsteady gait|Upper limb postural tremor|Urinary bladder sphincter dysfunction|Variable expressivity|Vocal cord paralysis|Young adult onset