I included here some of the terms commonly encountered with the myopathies and
similar disorders. I have used some of the terms on other pages; some I included simply as
information. I also included definitions of some other neuromuscular disorders as a reference.
- Non-degenerative low muscle tone which has been present from birth. In the past, this
was considered a diagnosis, but with advances in medicine more specific diagnoses can
usually be reached. At this point, a diagnosis of BCH usually means that something is
going on, but the doctors aren't sure what.
- A situation where an infant presents for birth feet or bottom first, instead of head
first. Some think that there may be a higher incidence of this with myopathic (and other
hypotonic) babies as they are not able to turn themselves to the more common head first
- A blood test which checks for the level of Creatine Kinase in the blood. This is often
one of the first tests given when a muscle disorder is suspected. An elevated CK is
usually indicative of a muscle disorder, as this enzyme is released when muscle damage has
occurred. A very high level, in the tens of thousands, generally indicates a muscular
dystrophy. Some people with myopathies have an elevated CK, some have a normal one. Normal
CK levels are considered to be under 100-150.
- Present at birth.
- An instance where an infant is born with a dislocated hip (or hips). Infants with
myopathies have a higher risk of this as weak muscles may not be able to keep the hips in
- A condition in which the leg bone does not fit properly in the hip socket. This
sometimes occurs in children with myopathies.
- A muscle disorder or disease present from birth. Even if symptoms do not sometimes
appear until early childhood or even later, the problem with the muscles is present from
- Far from the center, or trunk--hands and feet, for example.
- A skeletal deformity, such as an abnormally high forehead, high arched palate, or long
fingers and toes. These are associated with some of the myopathies, particularly with
nemaline myopathy. These traits, however, may be simply physical traits with nothing to
do with the myopathy.
- A test which assists in the diagnosis of muscle disorders. Small electrodes, much like
acupuncture needles, are inserted into the muscles. Through these, doctors are able to
listen to the electrical activity of the muscle. Certain changes are indicative of
myopathies or other muscle disorders. This test can be painful (although not always),
and many physicians will sedate children prior to its administration.
- Term used to describe some infants with muscle weakness or low muscle tone. Many parents
say that picking up these children is like "picking up a sack of flour." The child's
muscles provide no resistance--the child just "hangs there" when picked up.
- A method used by some people with muscle weakness to get off the floor. The person
gets on all fours, then walks their hands up their legs until upright.
- Joints which are unusually flexible. The symptom is present in a number of
neuromuscular disorders due to loose or weak muscles.
- Low muscle tone.
- A posture where the abdomen is thrown forward, commonly known as a "swayback." Caused
by weak muscles in the pelvic area--the abdomen is thrust forward and the shoulders back
to improve balance. Frequently occurs with winged scapula.
- A susceptibility to commonly used general anesthetics. Causes greatly increased
metabolism, muscle rigidity, and an elevated temperature of as much as 110°F. If not
immediately treated, death can result. Some survivors may have brain damage or other
impairment. Susceptible persons may have safe surgeries by avoiding the "trigger"
- The removal of a piece of muscle tissue for further study, usually in order to
diagnose a particular neuromuscular disorder. A biopsy is the only way to definitively
diagnose one of the myopathies. Biopsies may occasionally not lead to a definitive
diagnosis--this is more common in small children. Often another biopsy when the child is
older will yield clearer results.
- One of a group of disorders characterized by muscle wasting and degeneration.
Duchenne Muscular Dystrophy (DMD) is the most well-known, but there are others. The
muscles of the heart and lungs can be affected as well as the voluntary muscles.
- Disease or disorder of the muscles.
- Test where electrical impulses are sent down the nerves. The speed of these impulses
are measured in order to determine if the nerves are functioning properly. This test is
used to diagnose (or rule out) neuropathies.
- Disease or disorder of the nerves which connect the brain and spinal cord to the rest
of the body.
- Close to the center, or trunk--thighs and shoulders, for example.
- A genetic disorder causing muscles to weaken and waste away due to degeneration of the
nerve cells in the spinal cord. These cells connect with the muscles, and when the nerve
impulses are not able to get to the muscles, the muscles are not able to use their full
range of motion and begin to atrophy. There are several types of SMA, with varying
degrees of severity.
- Prominent shoulder blades while standing. When weak muscles in the trunk cause a
lordotic posture, the position of the shoulders causes the shoulder blades to "wing", or
become more prominent.