Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT4D
exact
Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1
exact
Charcot-Marie-Tooth disease type 4D
exact
Charcot-Marie-Tooth disease, type 4D
related
HMSN, Lom type
exact
HMSN-Lom
exact
HMSN4D
exact
HMSNL
exact
NDRG1 Charcot-Marie-Tooth disease type 4
exact
NMSL
related
hereditary motor ABD sensory neuropathy Lom type
exact
hereditary motor and sensory neuropathy, Lom type
exact