Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus [rarediseases.info.nih.gov]

Search Search for a rare disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Disease definition A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness [orpha.net]

[…] of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling [rarediseases.info.nih.gov]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus [rarediseases.info.nih.gov]

[…] diseases Search Search for a rare disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Disease definition A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle [orpha.net]

deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). [orpha.net]

Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. Last updated: 10/1/2018 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Charcot–Marie–Tooth disease Other names Charcot–Marie–Tooth neuropathy, peroneal muscular atrophy The foot of a person with Charcot–Marie–Tooth disease: The lack of muscle, a high arch, and claw toes are signs of this genetic disease. [en.wikipedia.org]

0001638 Decreased motor nerve conduction velocity 0003431 Distal amyotrophy Distal muscle wasting 0003693 Distal muscle weakness Weakness of outermost muscles 0002460 EMG: chronic denervation signs 0003444 Hammertoe Hammer toe Hammertoes [ more ] 0001765 Hyporeflexia [rarediseases.info.nih.gov]

Showing of 15 Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Cardiomyopathy Disease of the heart muscle [rarediseases.info.nih.gov]

Decreased reflexes [ more ] 0001265 Impaired distal tactile sensation Decreased touch sensation in extremities 0006937 Impaired distal vibration sensation 0006886 Onion bulb formation 0003383 Peripheral axonal neuropathy 0003477 Pes cavus High-arched [rarediseases.info.nih.gov]

deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). [orpha.net]

gait High stepping 0003376 Showing of 15 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]