Search for a rare disease Autosomal dominant Charcot-Marie-Tooth disease type 2E Disease definition A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness [orpha.net]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Some patients have generalized weakness in infancy, while others have adult-onset weakness that may include proximal muscles and sensory loss. Many patients experience leg cramps as an initial symptom. [charcot-marie-toothnews.com]

Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. [ghr.nlm.nih.gov]

In addition to the typical CMT symptoms, CMT2C patients experience additional symptoms, including hearing loss caused by nerve damage in the inner ear, weakness in the vocal cords causing a hoarse voice, and weakness of the muscle that separates the abdomen [charcot-marie-toothnews.com]

As disease progresses, a hoarse voice can develop and vocal cord paresis have been reported. Life expectancy and intelligence are not affected. [cmtausa.org]

IGHMBP2 gene mutations can present with two different phenotypes: 1) the severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) the milder CMT2S. Both are rare and recessive in nature. [cmtausa.org]

Many patients experience leg cramps as an initial symptom. CMT2Z affects the nerves farthest from the spine first and then travels up. Over decades, it progresses to muscles above the knees and elbows, including the hip and neck muscles. [charcot-marie-toothnews.com]

Other signs may be present, including hearing loss and postural tremor. [orpha.net]

Many people with CMT can have this clustering of symptoms: It really isn’t exclusive to any one type, but the key clinical finding is CMT with a tremor. [cmtausa.org]

For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). [ghr.nlm.nih.gov]

Roussy- Lévy Syndrome is used to describe a phenotype (or expression of symptoms) that includes high arches, loss of reflexes, distal limb weakness, tremor in the upper limbs, distal sensory loss and gait ataxia (lack of coordination), probably due to [cmtausa.org]

Patients with HNPP typically present in the second or third decade with recurrent, focal symptoms such as numbness, tingling, muscular weakness and pain. These episodes are often brought on by mild physical activities innocuous to healthy person. [cmtausa.org]

Roussy- Lévy Syndrome is used to describe a phenotype (or expression of symptoms) that includes high arches, loss of reflexes, distal limb weakness, tremor in the upper limbs, distal sensory loss and gait ataxia (lack of coordination), probably due to [cmtausa.org]

ORPHA:99939 Classification level: Disorder Synonym(s): CMT2E Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult, Infancy ICD-10: G60.0 OMIM: 607684 UMLS: C1843225 MeSH: - GARD: 9193 MedDRA: - The documents contained [orpha.net]