Classification of NNMZ
1. Primary progressive muscular dystrophies (primary PMD, myopathies)
2. Secondary PMD, or neurogenic (secondary) amyotrophy, i.e. spinal and neural amyotrophies due to damage at various levels (body or axon) of peripheral motor neurons
3. Congenital non-progressive myopathies
4. Myotonia
5. Paroxysmal paralysis
General signs of NNMZ:
1.muscular weakness manifests itself symmetrically and progresses gradually
2.muscular weakness is not accompanied by permanent pain, although painful muscle spasms are possible - cramps
3.In most forms of PMD, weakness appears earlier and predominates in the muscles of the pelvic or shoulder girdle and proximal extremities
4. tendon reflexes decrease in proportion to the severity of muscle weakness
5.paresthesias, disorders of superficial and deep sensitivity are rare, usually with neural amyotrophies
6.the disease usually does not affect the function of the pelvic organs
Some Symptoms and Phenomena Specific to PMD
1. Myopathic or duck gait
2. The Trendelenburg phenomenon: in a patient standing on one leg, the pelvis on the side of the raised leg falls, but does not rise, as is normal
3. The Duchenne phenomenon: when walking, the pelvis descends towards the unsupported leg, while the body deviates in the opposite direction
4. "Gnome eggs": pseudohypertrophy of the gastrocnemius muscles due to their fatty infiltration and the proliferation of connective tissue in them
5. Symptom of the "wasp waist": a kind of constriction of the trunk due to atrophy of the oblique and rectus abdominal muscles, while its transverse muscles remain intact
6. "Frog belly": low tone and hypotrophy of the abdominal muscles, lying flat, standing - protrudes forward
7. Beevor's symptom: standing of the navel
8. Shake test: looseness, excessive range of motion in the joints ...
9. The face of the "Sphinx": myopathic face, hypomimia ...
10. Lips "tapir": atrophy of the circular muscle of the mouth-lips protruding, turned out
11. Smile "Mona Lisa" 6 cross smile
12. Zinchenko's symptom: it is especially difficult for a patient to climb stairs ...
13. Symptom Shereshevsky - Govers: the patient gets up from a prone position through a series of successive intermediate movements + with his hands climbing his body
14. Calcaneal gluteal test
15. Orshansky's symptom: Overextension of the knee joint lying down (hypermobility)
PRIMARY PROGRESSIVE MUSCLE DYSTROPHIES (MYOPATHIES)
Consider hereditary diseases in which metabolic disorders lead to primary muscle dystrophy (myopathy)
CHARACTERISTIC:
Increasing muscle weakness
Muscle hypotension
Muscle hypotrophy
Tendon and periosteal hyporeflexia before areflexia
Limiting the range of active movements
Sometimes pseudo-muscle hypertrophy
There are no fibrillar and fascicular twitchings
In the opening, the muscles of the pelvic girdle are more often affected, less often the shoulder
Pronounced changes in creatine-creatinine metabolism
Decreased mechanical excitability of muscles
Pseudohypertrophic myodystrophy DUSHENNA
(X-clutch recessive type)
loss of muscle protein dystrophin
the most malignant form of primary myodystrophies
early childhood debut
from 2-5 years of age, weakness of the muscles of the PELVIC girdle, hips, duck gait is already developing
ascending process spread (up to the shoulder girdle)
pseudohypertrophy of the calf muscles is especially typical
over time, weakness occurs in the muscles of the face, tongue, pharynx, larynx, respiratory muscles
tendon retractions are possible (usually calcaneal)
cardiopathy develops
possible adipose-genital syndrome, adrenal hypoplasia, osteoporosis
30% have a lag in intellectual development
high degree of hyperenzymemia (CPK)
Late pseudohypertrophic myodystrophy BECKER-KINER
(X-clutch recessive type)
debut from 5 to 20 years more often 10-15 years
the spread of muscular dystrophies as in Duchenne muscular dystrophy
heart damage is less pronounced
live up to 30-60 years old, can have children, intelligence is preserved
increase in CPK activity moderate
called the mild form of Duchenne muscular dystrophy
qualitative change in dystrophin protein
EMERY-DRYFUS-HOGAN myodystrophy
(X-clutch recessive type)
debut from 4-5 years of age
damage to the muscles of the pelvic girdle with intact distal extremities
early retraction of the calcaneal tendons
no pseudohypertrophy
later spread to the shoulder girdle, contractures of the elbow joints, other large joints
in the later stages, stiffness of the spine, there may be weakness of the muscles of the face
development of myocardial dystrophy is characteristic
intelligence is usually preserved
sometimes live up to 60 years
increase in CPK moderate
CENTRONUCLEAR (myotubular) myopathy
form of newborns or in the period from 5 to 30 years old (late form)
generalized muscular dystonia is characteristic
in the case of the late form, first, the muscle weakness of the shoulder and pelvic girdle, face, upper eyelids, muscles that provide movement of the eyeballs
elongated facial skull, chest deformity, X-shaped legs
myocardial dystrophy
development of intelligence is common
on EMG changes in primary muscle character
MEBRI myodystrophy
(X-clutch recessive type)
manifests itself in boys during puberty
weakness of the muscles of the pelvic girdle and hips
later pronounced muscle pseudohypertrophy
uncommon tendon contractures
cardiomyopathy, lipomatosis
intelligence does not suffer
slowly progressive course
ROTTAUF-MORTIER-BEIER myodystrophy (fibrosing myopathy)
(X-clutch recessive type)
debut in childhood or adolescence (usually 5-12 years old)
pronounced tendon retractions and contractures (limitation of the dorsal extension of the feet, then flexion of the neck, extension in the elbow joints
pathological postures are gradually formed due to muscle fibrosis
further it is impossible to bend the spine
muscle wasting progresses slowly
muscle weakness is usually moderate
paresis and malnutrition prevail in the scapular-humeral region. and distal legs
no pseudohypertrophy
characterized by cardiomyopathy
intelligence is more often preserved
severe hyperenzymemia
often live up to 40-50 years old, die of heart failure
Juvenile myodystrophy ERBA-ROTA
debut in childhood or adolescence, more often at 14-16 years old
limb-girdle myodystrophy
primarily atrophy of the muscles of the pelvic girdle
early sign of duck gait and other myopathic phenomena
further muscle atrophy of the shoulder girdle, arms (LEYDEN-MOBIUS form)
rarely debut with muscle weakness in the shoulder girdle (ERBA form)
possible moderate pseudohypertrophy, formation of contractures
with lesions of the intercostal muscles and diaphragm - respiratory failure
facial muscles do not suffer more often
often endocrinopathies
variable course from mild to rapidly progressive
moderate hyperenzymemia
disability after 10-20 years
a malignant (pseudo-Duchenne) form is also possible, debut at 3-5 years
Shoulder-facial myodystrophy LANDUSI-DEZHERINA
(autosomal recessive)
debut more often by the age of 20, sometimes a little later
weakness and hypotrophy of the muscles of the face, especially the circular eyes and mouth, muscles of the shoulder girdle
early tapir lips, sphinx face, la Gioconda smile, pterygoid scapula
further: weakness of the anterior dentate, pectoralis major, lower trapezius muscles, latissimus dorsi, biceps, triceps
further: weakness of the peroneal muscles (stepage appears)
further: to a lesser extent the proximal muscles of the lower extremities
possible moderate pseudohypertrophy of the gastrocnemius and deltoid muscles
tendon reflexes gradually decrease
intelligence saved
current is relatively mild
moderate hyperenzymemia
women are 3 times more likely than men to get sick
Scapular-peroneal myodystrophy DAVIDENKOVA
1.Autosomal dominant form
manifests itself more often in childhood
sometimes in the 2-3rd decade of life
weakness and progressive muscle wasting of the shoulder girdle and peroneal group
muscles with extinction of tendon reflexes starting from the heel, stepage
weakness of the proximal arms and shoulder girdle
possible distal paresthesia, hypesthesia
as a rule, facial muscles are not affected
slowly progressive course
possible development of muscle contractures
increased activity of CPK in the blood
2. X-linked recessive form
debut in the first decade of life, sometimes with muscle contractures
first weakness in the pectoral, deltoid muscles, in the muscles of the proximal arms
later: peroneal muscles
characterized by a significant increase in CPK
characterized by cardiomyopathy (more often the cause of death)
Late distal myopathy HOVERS-WELANDER (WELANDER myodystrophy)
debut usually after 20 years more often 40-60 years
slowly progressive course
beginning with weakness and hypotrophy in the muscles of the feet and legs
later gradually the muscles of the hands and forearms
tendon and periosteal reflexes decrease and disappear
in the late stage, the proximal muscles of the extremities are affected
sensitivity preserved
facial muscles are always intact
no pseudohypertrophies
uncommon tendon retractions
possible cardiomyopathy
Ocular myodystrophy (external chronic progressive ophthalmoplegia GREFE)
the clinic manifests itself before the age of 30
slowly increasing damage to the outer eye muscles
proceeds, as a rule, without diplopia and leads to gaze paralysis
pupillary reactions preserved
the muscle lifting the upper eyelid is the first to suffer
in an advanced stage - bilateral ptosis
over time, mimic, bulbar, then skeletal muscles may be affected
External chronic progressive ophthalmoplegia (KILOHA myopathy - NEVINA)
(autosomal dominant type with incomplete penetrance)
debut from 8 months to 80 years, more often in the 3rd decade of life
slowly increasing ptosis of the eyelids, weakness of the outer muscles of the eye, circular muscles of the eye
(maybe asymmetrically)
gradually paresis of the gaze upward, then to the sides, then external ophthalmoplegia
maybe weakness of other muscles of the face, chewing, pharynx and larynx (BULBARNO-
OPHTHALMOPLEGIC form)
more often in women
Oculopharyngeal myodystrophy
(autosomal dominant type)
progressive external ophthalmoplegia + dysphagia and dysphonia
1 OPTION: characterized by ptosis of the eyelids and paresis of the muscles of the pharynx
OPTION 2: + paresis of the oculomotor muscles, facial and masticatory muscles,
muscles of the neck and proximal extremities
3 OPTION: + distal extremities
CPK rate or increase
EMG signs of muscular dystrophy
Progressive ophthalmoplegic myopathy (nuclear with retinitis pigmentosa, scrotal tongue and decreased intelligence)
manifested by external ophthalmoparesis / plegia + symptoms by definition
scrotal tongue = enlarged with deep transverse grooves
Oculocranoskeletal myopathic syndrome (KERNS-SHAY syndrome)
(autosomal dominant type)
debut up to 15 years in the form of external ophthalmoplegia
further signs of PMD on the face, with spread to the muscles of the neck, shoulder and pelvic
belts, proximal extremities
there may be hearing loss, bulbar syndrome
in CSF protein-cell dissociation
Late progressive muscular dystrophy SCHNEIDERMAN
(autosomal dominant type)
debut at the age of 30-40
the proximal parts of the limbs and facial muscles are predominantly affected
progressing slowly
EMG signs of primary muscle damage
Verkherbeck's disease
debuts with muscle cramps in the legs
further decrease in strength in the legs and muscle wasting of the legs
further spread up
Muscular dystrophy with DRYFUS contractures
(by recessive, sex-linked type)
debut at the age of 4-5 years
increasing muscle weakness, mainly in the muscles of the pelvic girdle and legs
rests on the big toes when walking
then lumbar hyperlordosis is formed
feature: the formation of contractures of the elbow and other joints
no pseudohypertrophy
the myocardium is often affected, mental retardation
LUNDBORG syndrome
(autosomal recessive type)
in the first years of life, oligophrenia, cataract
from puberty, progressive muscle weakness, mainly in the proxy
small parts of the limbs
hyperlordosis, duck gait
sexual infantilism
over time, weakness of the muscles of the neck, face, external muscles of the eye
in the later stages, complete immobility
Mitochondrial myopathies
manifests itself more often in the 2nd decade of life
at the onset: ptosis of the upper eyelids, external ophthalmoparesis without diplopia (the lesion is symmetrical)
weakness and weight loss first in the proximal muscles
tendon hyporeflexia
the duration of the progression of the process is variable (months-decades)
myopathic, neuropathic, neuromuscular disorders, autonomic, metabolic and endocrine disorders
Myopathy is a large group of diseases that have one symptom for everyone. This is a progressive muscle weakness, which subsequently leads to severe disability of the patient. In this case, the muscles completely lose their functions, and in some cases their degeneration occurs and adipose or connective tissue appears in their place.
Kinds
There are several classifications of myopathies, and so far there is no single one that would be accepted by all doctors. However, it is customary to divide them into hereditary and acquired.
Hereditary forms include:
- Congenital.
- Progressive ones, which are also called myodystrophy.
- Myotonia.
- Periodic paralysis.
- Hereditary metabolic types, which are divided into those that arise when carbohydrate metabolism is disturbed, when lipid metabolism is disturbed, and mitochondrial.
There are also acquired forms, which include inflammatory, endocrine and toxic.
For reasons of occurrence, they are also divided into two types. These are primary and secondary forms. The primary ones include independent diseases, which are most often congenital in nature. Here we can highlight:
- Myopathies of an early age, which appear in the first month of a baby's life.
- Early childhood, the first manifestations of which can be attributed to the age of 5 to 10 years.
- Youthful, which begin to appear in adolescents and young men.
Secondary forms arise as a symptom of some other disease, for example, intoxication or due to disturbances in the hormonal system.
Also, all types of this pathology can be classified according to the degree of muscle weakness. Here they can be divided like this:
- Proximal - affection of the hips and shoulders.
- Distal - calves, forearms, hands.
- Mixed.
Treatment does not depend on the type of disease and is almost always carried out in the same way.
How to identify a disease
Myopathy is a disease, the symptoms of which can appear both from the very birth of a baby, and after a person turns 15 to 18 years old. It all depends on what kind of disease the patient is suffering from.
So, for example, if the disease begins to manifest itself at an early age, then the syndrome of "sluggish child" is noted here. At the same time, the baby has a decrease in muscle tone, slight muscle weakness, poor muscle development and problems with sucking. As the child grows, muscle weakness becomes more noticeable, however, the pathology itself, as a rule, progresses very slowly, except in some cases when a child at the age of 10 already becomes deeply disabled.
Some children with a severe form of the disease simply cannot learn to walk on their own, and some develop severe paresis and paralysis, and in this case the child simply cannot move his arms and legs. Movement is possible only in a wheelchair.
Weakness that does not go away even after rest and fatigue are the first signs of the development of this ailment. Also, a person notes that he cannot perform his usual work if the pathology began to develop at a more mature age. Gradually, weakness increases, muscle tissue becomes thinner and can be completely replaced by adipose or connective tissue.
Sometimes with this disease there is a feeling that a person's muscles are highly inflated, this is especially noticeable on the calves. However, this is also one of the signs of the disease, and the muscles themselves in such calves are practically gone, they have been replaced by fat.
As a result of the disease, both all muscles at once and only some of their groups can suffer. It often happens that the disease first affects only one limb, and the second leg or arm remains completely healthy in appearance. But gradually muscle weakness also spreads to that limb, which was previously considered without pathology.
Another symptom is sluggishness and flabbiness of the muscles. However, all myopathies differ from each other in some differences in symptoms. For example, Duchenne myopathy never manifests itself in boys, progresses rapidly and the patient dies at a young age. Becker muscle myopathy is a slowly ongoing process, the first symptoms of which do not appear until adolescence, with only the legs and pelvic region affected.
Therapy for myopathies
No cure for congenital diseases has been found to date. Patients with these diagnoses are treated with symptomatic therapy, which only prolongs a person's life. However, without it, death occurs within a few years after the diagnosis.
The main treatment for myopathy is to maintain tone and maintain joint mobility. As a rule, several times a year, and most often every 2 months, a person must undergo complex treatment in a neurological hospital, which includes:
- Massage.
- Physiotherapy exercises.
- Lessons in the pool.
- Physiotherapy with proserin and other drugs.
If necessary, the patient is advised to wear corsets that help to cope with the curvature of the spine. However, such corsets are worn even when the first changes in the spinal column appeared, for example, kyphosis, scoliosis or lordosis. Corsets are selected strictly individually, depending on age.
As for drugs, in most cases, corticosteroids are prescribed. Among them, prednisone comes out on top. The drug is selected according to a strictly individual scheme and its introduction helps to prolong a person's life for several more years. However, if any side effects occur when using corticosteroids, for example, obesity appears, then the drug is immediately canceled.
As for the treatment with other drugs, here the courses are used:
- Cerebralizin.
- Theonicol.
- Proserin.
- Nootropil.
- Cavinton.
- Pyridoxal Phosphate.
- Oksazil.
- Encephabol.
- Riboxin.
- Trental.
After a person learns their diagnosis in adolescence or adolescence, they experience some stress. Therefore, all patients with this disease need psychological help and support.
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