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Glossary
A [back]
action potential  electrical activity produced by contracting muscle fibres
alleles  alternate forms of the same gene-the normal and its mutant(s)
amino acids  small organic compounds which are the building blocks of proteins
amniocentesis  procedure for removing a small amount of amniotic fluid for prenatal diagnosis
amniotic fluid  fluid which surrounds the foetus in the womb (uterus)
anterior tibial  at the outer side of the front of the shin bone or tibia 
apoptosis  process of cell death that results from turning on specific, active processes in the cell that lead the cell to kill itself
artificial insemination by donor  insemination of a woman with sperm from a donor other than her partner
atrophy  a decrease in the size of an organ or tissue (wasting). Common causes of diseases involving muscle atrophy are a lack of nutrients or blood supply or loss of signals from the nerve cells.
autosome  any chromosome other than the sex chromosomes
axon  long projection of a neuron
B [back]
biopsy  removal of a small amount of tissue (usually muscle) for examination
C [back]
cardiac muscle  heart muscle
carrier  an individual who has inherited a normal gene from one parent and a particular abnormal gene (allele) from the other; also referred to as a heterozygote
carrier testing  tests to find out if a person not showing signs of a condition nevertheless carries the gene and could pass it on to his or her children
cataracts  opacities in the lens of the eye, sometimes also referred to as lenticular opacities
catheter  a long, slender, flexible tube
chorion  outer layer of cells which cover the developing embryo
chorion biopsy  removal of foetal chorionic villi for prenatal diagnosis, sometimes a1so referred to as chorionic villus samp1ing-CVS
chorionic villi  finger-like projections of the chorion
chromosomes  thread-like bodies within the nucleus which stain with particular dyes; they contain the genes
clone  all the ce1ls derived from a single cell by repeated division and therefore all having the same genetic constitution
conceptus  the fertilized ovum and the embryo into which it develops
congenital  present at birth (or soon afterwards)
consanguinity  the genetic relatedness between individua1s of the same family, such as cousins
contractures  shortening of muscles due to prolonged immobility which results in the associated joints becoming fixed and no longer able to move freely
coping process  the psychological sequence of events which follow any stressful situation
CPK  abbreviation for creatine phosphokinase, sometimes shortened to
CK (creatine kinase), a muscle enzyme important in muscle contraction
creatine kinase  see CPK; a type of protein found in a muscle. Children with Duchenne muscular dystrophy have abnormally high levels of this.
CT  abbreviation for computerized tomography, a radiographic diagnostic technique for producing images of internal body organs, including muscle
CVS  see chorion biopsy
cytoplasm  the substance of the cell in which the nucleus and mitochondria are located
D  [back]
deletion  the absence of genetic material on a chromosome
diploid  the number of chromosomes in the cel1s of the body ( 46); each cell contains two sets of chromosomes, one set derived from each parent
diplopia  double vision
disorder  another term for disease
distal  part of the limb most distant from the trunk (e.g. forearms and hands, lower legs and feet)
DNA  deoxyribonucleic acid-the chemical basis of genes in which is coded information for synthesizing proteins
dominant  an abnormal gene which is expressed in the  heterozygote
dysphagia  difficulty in swallowing
dystrophin  a protein associated with the membrane surrounding each muscle fibre, which is absent in Duchenne muscular dystrophy and abnormal in Becker muscular dystrophy
dystrophy  a disorder caused by defective “nutrition” or metabolism
E  [back]
ECG (or EKG)  abbreviation for electrocardiogram, a non-invasive method for studying the function of the heart
EMG  abbreviation for electromyogram, an electrical test used in diagnosing dystrophy
endocrine g1ands  glands which secrete substances into the blood which then affect other organs
( e.g. thyroid gland)  
enzymes  particular proteins in the cell responsible for chemical reactions
F  [back]
familial  a term for a trait or disease which can affect several members of the same family
G  [back]
gametes  sperm and ova
gene  part of the DNA molecule which is responsible for synthesizing proteins
gene marker  a small segment (sequence) of DNA which is used to identify a mutant gene in an individual or trace its inheritance within a family
gene probe  a small segment (sequence) of DNA which is identical with part or all of a gene
gene therapy  treatment of inherited disease by the addition or substitution of a normal gene
genetic  any characteristic or trait which is inherited
genetic markers  harmless variations in the DNA which lie close to the site of a disrupted gene which may be used for tracking the condition through a family
genome  all the genes in a cell
germ cell  a sex cell
germline mosaic  the presence in the ovary of two different populations of cells
glycoproteins  a group of proteins which, with other proteins including dystrophin, are associated with and maintain the integrity of the muscle fibre membrane
Gower's sign  pressing on the thighs in order to straighten up
graft rejection  the rejection of a transplanted tissue or organ due to the host's immune response to the 'foreign' material
H  [back]
haploid  the number of chromosomes in each of the gametes (23)
heart block  a defect in the conducting system of the heart which results in abnormal slowing of the heart rate
heterozygote  an individual who has inherited a normal gene from one parent and a particular abnormal gene (allele) from the other; also referred to as a carrier
histochemistry  the microscopic chemical study of tissues such as muscle
histology  the microscopic study of tissues such as muscle
homozygote  an individual who has inherited a particular allele from both parents (two identical abnormal genes in a homozygous affected individual)
humerus  the upper arm bone
hypotonia  floppy; decreased muscle tone
hypoxia  low oxygen level in the blood
I  [back]
immune response  the response by the body to 'foreign' material (transplant or infection) which is thereby destroyed
in utero  literally, in the uterus
in vitro  literally, in glass, meaning in the laboratory; thus, in vitro fertilization is the fertilization of an egg by a sperm in the test-tube in the laboratory
ion  an electrically charged atom
isotonic  a solution of salts of the same composition as the body fluids
K  [back]
karyotype  a photomicrograph of an individual's chromosomes arranged in pairs in a standard manner, from the largest (number I) down to the smallest (number 22) autosomes and the two sex chromosomes
L  [back]
laparoscopy  insertion of a fine telescopic tube into the abdomen in order to visualize organs such as the ovaries
lenticular (lens) opacities  see cataracts
leucocyte  a white blood cell
limb girdle  hips and shoulders
locus  the location of a gene on a chromosome
lordosis  exaggerated forward curvature of the lower back
M  [back]
macrophage  a cell in diseased muscle which consumes necrotic fibres
manifesting carrier  a female carrier of an X -linked muscular dystrophy who has some weakness
meiosis  the process of cell division in the sex ce1ls which results in haploid gametes
membrane  surrounding outer layer
mitochondria  minute structures or organelles within the cell concerned with the production of energy
mitosis  the process of division in the body ce1ls
molecular genetics  the study of genes at the submicroscopic level
mosaic  two different populations of ce1ls in the same tissue (e.g. ovary) of an individual
muscle fibre  the basic unit of muscle tissue; formed by the fusion of groups of muscle ce1ls each having one nucleus to produce muscle fibres with many nuclei
mutation  changed and abnormal gene; sometimes used to describe an individual with a genetic abnormality not present in the genes of either parent
myasthenia  muscle weakness resulting from faulty communication between nerve and muscle at the place where nerve and muscle meet (the neuromuscular junction)
myelin  covering of the axon like the insulation around a wire
myoblast  cell with a single nucleus which fuses with other myoblasts to eventually form muscle fibres
myoblast transfer therapy  a potential method of treatment for Duchenne Muscular Dystrophy which involves the transplantation of billions of healthy donor cells into muscle
myoglobin  oxygen-carrying protein of muscle
myometer  instrument used to measure muscle strength
myopathic  originating in the muscle
myopathy  any disease of muscle
myotonia  delayed relaxation after muscle contraction
N  [back]
necrosis  literally, death; a descriptive term for the microscopic changes seen in muscle fibres in muscular dystrophy
neurogenic  originating in the nervous system
neuron  cell of the nervous system. May be motor, sensory or specialized for other purposes.
nucleus  the structure within the cell which contains the chromosomes
O  [back]
ocular  relating to the eye
orthoses  devices or aids to prevent or correct deformities
P  [back]
pathogenesis  the development of the disease process
pectoral  in the shoulder region
pelvic  in the hip region
peroneal  more or less synonymous with anterior tibial
pharyngeal  relating to the pharynx
pharynx  the upper part of the airway, at the back of the throat
placebo  an inactive compound which closely resembles an active drug
preclinical diagnosis  diagnosis of a genetic disorder before there are any symptoms of the disorder
pre-implantation diagnosis  diagnosis of a disorder in the fertilized conceptus before it becomes implanted into the uterus
prenatal  literally, before birth
prevalence  frequency of a disorder in a population
prognosis  probable course and outcome of a disease
promoter  a segment (sequence) of DNA which 'turns on' an associated gene
proteins  large molecules, composed of amino acids, which are essential components of the body; they include enzymes
proximal  part of the limb closest to the trunk (e.g. upper arms and shoulders, thighs and hips )
pseudohypertrophy  enlargement of muscles (usually the calves) which can occur in dystrophy; a term used if the muscle (when enlarged) is partly or completely replaced by fat
prognosis  predicted course and outcome of a disorder
ptosis  drooping of the eyelids
R  [back]
recessive  an abnormal gene which is only expressed in the homozygote
S  [back]
sarcolemma  two-layered outer membrane of muscle fibres
scapula  the shoulder blade
scapular  around the shoulder
scoliosis  curvature of the spine to one side
sex chromosomes  the pair of non-autosomal genes which determine an individual's sex (XX in the female, XY in the male)
sex-linked  a gene on the X chromosome
sibling ( or sib )  brother or sister
skeletal muscles  those muscles which move joints
slit lamp  an instrument used by ophthalmologists to examine the lens of the eye
smooth muscle  involuntary muscles of the gut and blood vessels
somatic cells  ce1ls of the body other than the sex ce1ls (gametes, germ cells )
Southern blot  a method of transferring DNA fragments to a nitro  cellulose filter where they can be tested using a gene marker or gene probe
spinal muscular atrophy  the muscle wasting or atrophy in this genetic disorder results from loss of signals from nerve cells in the spinal cord
steroids  a group of drugs which have a wide range of uses in medicine, including the suppression of the immune response (e.g. after a tissue transplant)
syndrome  the complex of signs and symptoms which occur together in any particular disorder
T  [back]
talipes  turning in of the sole of the foot
tibia  shin bone
tibial  relating to the tibia
tracheostomy  insection of a tube (airway) into the upper trachea (windpipe)
trait  an inherited characteristic
translocation  occurs where there is a rearrangement in which a piece of one chromosome is transferred to another with a different number
U  [back]
ultrasound  sound waves above hearing frequencies, used to study internal body organs (e.g. muscle structure, the position of the placenta, and the fetus in utero)
V  [back</