Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]

Acronym CMT4A Synonyms Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A Charcot-Marie-Tooth disease neuropathy type 4A Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

The majority of affected children present with scoliosis (curvature of the spine) between ages 2 and 10 years. Slow, progressive CMT symptoms such as muscle weakness and numbness usually manifest in the first decade or at adolescence. [charcot-marie-toothnews.com]

Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. [euro-libris.ro]

• Developmental Delay

  Motor delay MedGen UID: 381392 •Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

• Paresis

  Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]

  Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications. [ncbi.nlm.nih.gov]

  Hearing loss, vocal cord involvement, and facial paresis (partial paralysis) have been reported. The nerve conduction velocity (the speed at which nerve signals travel across nerve cells) is slow and usually ranges between 16 and 36 m/s in the arms. [charcot-marie-toothnews.com]

  AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS [ghr.nlm.nih.gov]

• Hyporeflexia

  Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

• Areflexia

  Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding A finding indicating the complete absence of neurological reflexes. [ncbi.nlm.nih.gov]

• Absent Deep Tendon Reflex

  deep tendon reflexes, and hollow feet. [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [charcot-marie-toothnews.com]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [euro-libris.ro]

PMID: 26848201Free PMC Article Prognosis Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A Acta Biochim Pol 2014;61(4):739-44. [ncbi.nlm.nih.gov]

PMID: 20512157Free PMC Article Etiology Jiang H, Guo C, Xie J, Pan J, Huang Y, Li M, Guo Y BMC Neurol 2021 Mar 2;21(1):96. doi: 10.1186/s12883-021-02093-z. [ncbi.nlm.nih.gov]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [ghr.nlm.nih.gov]

Mutations in EGR2 result in an abnormal protein that is unable to bind to the DNA, preventing the expression of genes involved in myelin production. This results in loss of myelin and impaired nerve signal transmission. [charcot-marie-toothnews.com]