Charcot-Marie-Tooth disease type 4G

Also known as: CMT4G; HMSNR; Hereditary motor and sensory neuropathy, Russe Type
 

Definition

Orphanet

Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.

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Classification

Categories:
This Disease:
Charcot-Marie-Tooth disease type 4G
Variants:

Symptoms

Medical Term Other Names Description
Distal muscle weakness Distal paresis, Muscle weakness, distal limbs, due to neuronopathy, Distal muscular weakness, Distal limb weakness, Distal limb muscle weakness due to peripheral neuropathy, Weakness of outermost muscles, Distal limb muscle weakness [more] Reduced strength of the musculature of the distal extremities.
Muscle weakness Muscular weakness Reduced strength of muscles.
Sensory impairment Hypoesthesia, Hypoaesthesia An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Progressive distal muscle weakness Progressively reduced strength of the distal musculature.
Abnormality of the hand Hand anomalies, Hand deformities, Abnormal hands [more] An abnormality affecting one or both hands.
Distal sensory impairment Distal sensory loss, Distal sensation loss, Decreased distal sensation, Distal sensory impairment of the lower extremities, Distal sensory loss, upper and lower limbs, Distal sensory impairment in lower limbs [more] An abnormal reduction in sensation in the distal portions of the extremities.
Decreased nerve conduction velocity Decreased NCV, Reduced nerve conduction velocities, Delayed nerve conduction velocity, Slow nerve conduction velocity, Slowed nerve conduction velocities, Decreased nerve conduction velocities [more] A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Areflexia Loss of deep tendon reflexes, Deep tendon reflexes absent, Absent tendon reflexes [more] Absence of neurologic reflexes such as the knee-jerk reaction.
Motor delay Delayed motor development, Retarded motor development, No development of motor milestones, Delayed early motor milestones, Motor retardation, Locomotor delay, Delay in motor development, Motor developmental delay, Motor developmental milestones not achieved, Delayed motor milestones [more] A type of Developmental delay characterized by a delay in acquiring motor skills.

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