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Myopathies
Primary inflammation.
Muscle Diseases (Sign & Symptoms):
Clinical manifestations:
Muscle wasting.
Stiffness or myotonia.
Easy fatigability.
Muscle Diseases:
Muscular dystrophies: These are inherited diseases of muscle, which generally result in
progressive degeneration. They are classified according to inheritance pattern,
clinical pattern of muscle groups involved and, as the genes responsible become characterized,
increasingly by molecular genetic technique.
Myopathies: These are a group of conditions of diverse etiology, grouped together because
of a predominant impact of disease on the muscle; there are four main sub-groups:
Inflammatory myopathies (primary inflammation. of muscle amenable to therapy),
very common.
Secondary myopathies (a systemic disease process causes pathology in muscle,
often amenable to therapy), these are common.
Metabolic myopathies (primary metabolic problem has a major impact on muscle
function), these are uncommon.
Congenital myopathies (the are distinguished from the dystrophies in that they are
generally non-progressive), these are rare.
It is caused by mutation in the gene coding for dystrophin (a protein that normally
helps anchor the internal cytoskeleton of muscle fibers through the cell
membrane and to the extracellular matrix). Lack of dystrophin renders fibers liable to
tearing with repeated contraction.
The onset of clinical features is early in childhood, affected children showing muscle
weakness with high a high S. CK level (caused by necrosis), and clinical calf
hypertrophy (due to fatty replacement of muscle).
the disease has a very poor prognosis, most affected individuals dying in their late
teens. Heart muscle is also affected, leading to cardiomyopathy.
Gower’s
Sign in
DMD
Myotonic Dystrophy:
It is the most common inherited muscle disease of adults that is characterized by
muscle weakness, myotonia, and several non-muscle features including
cataracts & frontal baldness in males, cardiomyopathy and low
intelligence.
The responsible gene is located on chromosome 19, coding for a protein kinase.
Histologically, affected muscles show abnormalities of fiber size, with fiber necrosis,
abundant internal nuclei, and replacement by fibro-fatty tissue.
Limb Girdle Syndrome:
Patients with this syndrome may have one of several diseases; patients who have
weakness in pelvic girdle & proximal leg muscles or in shoulder girdle and
proximal arm muscles are said to have a limb girdle syndrome.
Fascioscapulohumeral dystrophy:
This may be caused by several diseases and the true one presents with weakness
in the face & shoulder, and is associated with a slow clinical progression.
Onset is generally in the third decade and all cases require investigation, as a
variety of metabolic, inflammatory, neurogenic and myopathic disorders
may be responsible.
Congenital Myopathies:
They usually present in childhood as hypotonia (floppy baby syndrome) or
muscle weakness.
The majority of congenital myopathies are named after the structural abnormalities
seen on muscle biopsy, e.g. central core disease, nemaline body myopathy,
myotubular myopathy, congenital fiber-type disproportion.
They are non progressive and this distinguish them from muscular dystrophies.
Although many types are compatible with a long life expectancy , others may
cause disability because of secondary skeletal deformities or respiratory
muscle involvement.
Inflammatory Myopathies:
The inflammatory myopathies are characterized by primary inflammation of
muscle, with resulting fiber necrosis. The inflammatory infiltrate is mainly
composed of T-cells and monocytes as part of an abnormal autoimmune
response.
Initially, individuals may feel fatigued doing very light physical activity. Walking and
climbing stairs may be difficult because of weakness in the pelvic and leg
muscles that stabilize the trunk. Patients often find it difficult to rise from a
chair. As the myopathy progresses, there may be muscle wasting.
Questions About Muscular Dystrophies:
The family can, however, do much to help the child make the best of his
life and adapt to his limitations as they progress.
Also the use braces to prevent contractures may help the child to keep
walking longer. If the child sits in a bad position, pillows or supports to
help him sit straighter can help prevent deformities.
If the child sits in a bad position, pillows or supports to
help him sit straighter can help prevent deformities.
Even though he is slow and awkward, encourage him to take
part. Feeling sorry for him and just letting him sit is the
worst thing you can do.
If contractures of the knees and hips begin to
develop, try resting or sleeping with 'sand bags' to
press down the legs and help straighten them.
Other aids. The child will reach a point where he needs to use crutches. Later,
(often by age 10) he will not be able to walk. Do not force him when it becomes
too hard. Instead, try to obtain or make a wheelchair. At first, the child may be
able to roll it himself. But as his weakness progresses, he may need to be
pushed.