Charcot-Marie-Tooth disease type 1F
Therapeutic area
Neurology
Rare disease
Yes
- Definition
- A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Charcot-Marie-Tooth disease type 1F
- Therapeutic area
- Neurology
- Charcot-Marie-Tooth disease type 1F
- CMT1F
- Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL
- Charcot-Marie-Tooth disease, type 1F
- NEFL Charcot-Marie-Tooth disease type 1
- CMT 1F
- Charcot Marie Tooth disease type 1F
- Charcot-Marie-Tooth disease, demyelinating, type 1F
- All therapeutic areas
- Neurology
- Severity
- Severe
- Genetic
- Hereditary
- MONDO ID
- MONDO:0011902
- Parent condition
- MONDO:0019011
Related records
Broader conditions (15)
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease type 1
- Disease
- Disease by body system or component
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Hereditary disease
- Hereditary neurological disease
- Hereditary neuromuscular disease
- Hereditary peripheral neuropathy
- Human disease
- Nervous system disorder
- Neuromuscular disease
- Peripheral nervous system disorder
- Peripheral neuropathy
Trials (46)
- A 12 Week Randomized Open Label Parallel Group Multicenter Study to Evaluate Bioequivalence of 20 mg Subcutaneous Ofatumumab Injected by Pre-filled Syringe or Autoinjector in Adult RMS Patients
- A Study of a Blood Marker in Newborns With Brain Injury Caused by Lack of Oxygen at Birth
- Analysis of NfL and GFAP in Different Dietary Patterns
- Anesthetic Neurotoxicity: the Association Between General Anesthesia and the Level of Plasma Neurofilament Light
- Antisense Oligonucleotide for Spinal Muscular Atrophy
- Association of Intraoperative Blood Pressure Excursions Below Cerebral Autoregulatory Boundaries With Organ Injury Following Major Noncardiac Surgery
- Association of Plasma Biomarkers for Neurological Injury and Postoperative Delirium After Cardiac Surgery
- Biological and Cognitive Marker of Neurodegeneration in Obstructive Sleep Apnea Patients
- Biomarkers Associated With Postoperative Cognitive Dysfunction
- ChariotMS - Cladribine to Halt Deterioration in People With Advanced Multiple Sclerosis
- Cognitive Fraility and Biomarkers in Older Patients
- Comparison of Efficacy and Safety in Patients Switching From MabThera® to Rixathon® in Relapsing-Remitting Multiple Sclerosis
- DIV-AD BARCELONA: Alzheimer's Blood-Based Biomakers for a Diverse Community
- Early Detection of Brain Injury After Congenital Heart Surgery in Infants
- Effect of Transcranial Direct Current Stimulation (tDCS) on Post-stroke Patients on Neuromotor Recovery
- Effects of Permissive Hypercapnia on Concentration of Postoperative Plasma Neurofilament Light
- Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-1)
- Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-2)
- ELIOS - Investigational Biomarkers to Track Disease Modification in Active RRMS
- Evaluation of Functional and Biochemical Effectiveness of a Strength Training Protocol in Parkinson's Disease