Types of Inheritance

Dominant Inheritance

X Linked Inheritance

Recessive Inheritance

Genetic Terms

Myotubularin

Defects in the gene for this protein account for X-linked cases of Centronuclear / Myotubular Myopathy. The myotubularin protein is an enzyme whose function is required for proper development of muscle cells.

MYF6 (Myogenic Factor 6)

Defects in this gene are responsible for some cases of Autosomal Dominant Centronuclear Myotubular Myopathy. The MYF6 protein, like Myotubularin, is required for proper development of muscle.

Apnea Monitor

A machine that records respiratory (breathing)movement by measuring chest movement and heart rate.

Bronchodilator

A drug (i.e. albuterol) that "opens" up the airway and allows relaxation of airway muscles.

Central Nuclei

Normally the nuclei ("control centers that contain the chromosomes") of mature muscle cells are found along the very edges of the muscle cells to make room for the dense mesh of proteins required for lengthening and contracting; however, very young cells (during fetal development), or cells that are undergoing regeneration, typically have nuclei located in the centers of the cells. Centronuclear Myopathy is so-named because many of an affected person's muscle cells may have centrally located nuclei well after birth.

Fibre-Type Predominance and / or Disproportion

There are two basic sizes of muscle fibres: large (type 1) and small (type 2). The fibers can be differentiated by their staining properties. In muscles commonly biopsied, these fibres normally are found in a ratio of 1:2 for type 1 and type 2 fibres, respectively. In Centronuclear Myopathy, there are many more type 1 fibres than normal and these fibres are abnormally small.

Gastrostomy Tube (G-Tube)

G-Button

Similar to a G Tube, that goes from the stomach to the outside of the body, but instead of a tube coming out of the abdomen, there is a round piece (button). A feeding extension is hooked up to the button to transport nutrients inside.

Hypotonia

Lordosis

Muscle Biopsy

Muscle Wasting / Atrophy

Pulse-Oximeter

An instrument that measures the saturation (%) of oxygen in arterial blood (SpO2) and heart rate. These are measured by a probe that is either clipped onto a finger, or one that is taped onto a digit, hand, or foot. The probe has a glowing red light on it. It takes these measurements from the pulse of the patient.

Scoliosis

Stander / Standing Frame

An apparatus used by patients who are unable to or struggle to to stand upright. A stander or stander frame can be used by children or adults and on first sight looks like a bed that the patient lies upon. The feet are nestled into foot supports or thick material for comfort and the patient is strapped in for security. Once secure, the bed is adjusted, off the ground and then into an upright position, often by the use of a hand held control (the horizontal, flat surface, with the body lying on it, becomes vertical). The stander has a range of degrees that the patient can be stood at that range from 0-90.

Tracheostomy