Charcot-Marie-Tooth disease type 5
Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.
MONDO:0002316
motor peripheral neuropathy
is_a
MONDO:0019064
hereditary spastic paraplegia
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
Charcot-Marie-Tooth disease-pyramidal features syndrome
exact
HMSN 5
exact
HMSN5
related
hereditary motor and sensory neuropathy 5
related
hereditary motor and sensory neuropathy type 5
exact