A device used to assist with toileting when the individual is unable to manage unaided.
A group of rare neurological disorders known as motor neuron diseases. ALS is characterized by the progressive degeneration and eventual death of nerve cells in the brain, brainstem, and spinal cord. ALS presents similar signs and symptoms to CMT4J and is often referred to as Lou Gehrig’s disease.
The absence of reflexes.
Inheritance characteristic where a gene is located on a numbered, non-sex chromosome. These are found on one of the 22 pairs of (44 total) autosomal chromosomes in a human body where DNA is stored. This is one of several ways that a trait, disorder, or disease can be passed down through families. These chromosomes are not the sex (X or Y) chromosomes.
Any chromosome in a cell that is not an X or Y sex chromosome. The average person has 22 pairs of autosomes (44 autosomes in total) in each cell that define the genetic make-up, or DNA, of the individual. These chromosomes store thousands of genes and they are inherited from the parents. In addition to the 22 pairs of autosomes (44 total), individuals also have one pair (2 total) sex chromosomes (X and Y in a male, and X and X in a female).
Long and single nerve-cell process that usually conducts impulses away from the cell body.
When a variant has no impact on health and is recognized as a neutral variant.
A noninvasive breathing support device that gives ventilatory support without using an invasive artificial airway (endotracheal tube or tracheostomy tube).
The most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease. CMT is further classified based on the genetic mutation or variant involved – for instance, CMT4A, CMT4B, etc.
A rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to handicap, and respiratory issues with no available treatment. CMT4J is a recessive subtype of CMT caused by a variant, also referred to as a mutation, in the FIG4 gene.