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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.
Benign Congenital Hypotonia Return - 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.
Breech Presentation Return - 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 position.
CK Enzyme test Return - 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.
Congenital Return - Present at birth.
Congenital Hip Dislocation Return - 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 their sockets.
Congenital Hip Dysplasia Return - A condition in which the leg bone does not fit properly in the hip socket. This sometimes occurs in children with myopathies.
Congenital Myopathy Return - 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 birth.
Distal Return - Far from the center, or trunk--hands and feet, for example.
Dysmorphic Features Return - 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.
EMG (Electromyography) Return - 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.
Floppy Infant Return - 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.
Gower's Maneuver (or Sign) Return - 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.
Hypermobility of Joints Return - Joints which are unusually flexible. The symptom is present in a number of neuromuscular disorders due to loose or weak muscles.
Hypotonia Return - Low muscle tone.
Lordosis (or Lordotic Posture) Return - 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.
Malignant Hyperthermia Return - 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" anesthetics.
Muscle Biopsy Return - 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.
Muscular Dystrophy Return - 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.
Myopathy Return - Disease or disorder of the muscles.
NCV (Nerve Conduction Velocity--or Study) Return - 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.
Neuropathy Return - Disease or disorder of the nerves which connect the brain and spinal cord to the rest of the body.
Proximal Return - Close to the center, or trunk--thighs and shoulders, for example.
Spinal Muscular Atrophy Return - 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.
Winged Scapula Return - 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.