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???? (Myopathies)

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(Myopathies) Dep. of Neurology The 2nd Hospital Harbin Medical University (progressive muscular dystrophy, PMD) ... – PowerPoint PPT presentation

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Title: ???? (Myopathies)


1
???? (Myopathies)
  • Dep. of Neurology
  • The 2nd Hospital
  • Harbin Medical University

2
????????(progressive muscular dystrophy, PMD)
  1. ??
  2. ???????
  3. ??
  4. ????
  5. ???????
  6. ??

3
Progressive muscular distrophy (PMD) Definition
  • inherited myogenic disorders.
  • progressive muscle wasting and weakness of
    variable distribution and severity.

4
Progressive muscular distrophy (PMD) Introduction
mode of inheritance age at onset distribution of affected muscle presence or absence of pseudohypertrophy rate of progression long-term outlook Pseudohypertrophy Duchenne and Becker Facioscapulohumeral limb-girdle (Erb) Distal Oculopharyngeal Ocular

5
Duchenne muscular distrophy (DMD) Etiology
  • an X-linked recessive condition that affects
    predominantly male.
  • caused by the absence or disruption of the
    protein dystrophin, the gene codes for which
    located at Xp21.
  • The main function of the dystrophin complex is
    its structural role in maintaining sarcolemmal
    integrity during contraction.

6
Duchenne muscular distrophy (DMD)
Pathology
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  • Normal dystrophin Absent of dystrophin

7
Duchenne muscular distrophy (DMD) Clinical
manifestations
  • Symptoms is apparent by 4 years old, and patients
    are typically severely disabled by adolescence,
    with death occurring in the third decade.
  • Toe walking, waddling gait, and inability to run
    are early symptoms.
  • Weakness is most pronounced in the proximal upper
    extremities, but also affects the proximal lower
    extremities.

8
Duchenne muscular distrophy (DMD) Clinical
manifestations
  • Winged scapulae are common.
  • Pseudohypertrophy of the calves caused by fatty
    infiltration of the muscle is common (90).
  • In attempt to rise to stand from a supine
    position, patients characteristically must use
    their arms to climb up their bodies (Gower's
    sign).

9
Duchenne muscular distrophy (DMD) Clinical
manifestations
  • The heart is involved late in the course.
  • Mental retardation is a frequent (1/3)
    accompaniment.
  • EMG myopathic (abundance of short,
    low-amplitude, polyphasic MUP) .
  • Serum creatine phosphokinases (CPK) levels are
    exceptionally high (gt10 000U/L).

10
Duchenne muscular distrophy (DMD) Treatment
  • No definite treatment is available.
  • some studies suggest that prednisone, 1.5 mg/kg/d
    orally, may improve muscle strength in the short
    term (up to 6 months).
  • Side-effects include weight gain, cushingoid
    appearance, and hirsutism.
  • the long-term effects of prednisone in this
    disorder are uncertain.

11
Becker muscular dystrophy (BMD)
  • also X-linked condition, with similar pattern of
    weakness, but much milder course, to that
    observed in DMD.
  • In contrast to DMD, dystropin levels in muscle
    are normal, but the protein is qualitatively
    altered.

12
Becker muscular dystrophy (BMD)
  • late onset (average age of 12 years), slow
    progression (duration up to 25 years). Also the
    age at death are later.
  • Few develops cardiacmyopathy.
  • CPK levels are less strikingly elevated than in
    DMD.

13
Facioscapulohumeral muscular dystrophy
  • An autosomal dominant disorder.
  • The genetic defect is a rearrangement of a
    homeobox gene localized to 4q35.
  • usually has its onset in adolescence, this is
    compatible with normal life span.
  • The clinical severity of this condition is highly
    variable.

14
Facioscapulohumeral muscular dystrophy
  • Weakness is typically confined to the face, neck
    and shoulder girdle, but foot drop can occur.
    Winged scapulae are common.
  • The heart is not involved.
  • EMG myopathic.
  • serum CPK levels are normal or only slightly
    elevated.

15
Limb-Girdle muscular dystrophy (Erb)
  • Previously a catchall designation that probably
    subsumed a variety of disorders.
  • including undiagnosed cases of other dystrophies.
  • inherited in autosomal recessive fashion.
    Sporadic cases are not rare.

16
Limb-Girdle muscular dystrophy (Erb)
  • The disorder begins clinically between late
    childhood and early adulthood and progresses
    slowly.
  • In contrast to DMD and BMD, the shoulder and
    pelvic girdle muscles are affected to a more
    nearly equal extent.
  • Pseudohypertrophy is not common. The heart is not
    involved.
  • EMG myopathic.
  • CPK levels are less elevated.

17
Ocularpharyngeal muscular distrophy
  • An autosomal dominant disorder.
  • found with increased frequency in certain
    geographic areas.
  • begins in the third to fifth decades.
  • ptosis, total external ophthalmoplegia,
    dysphagia, facial weakness, and dysarthria.
  • CPK is mildly elevated.

18
Distal muscular dystrophy
  • autosomal dominant dystrophy.
  • typically presents after age 40, although onset
    maybe earlier and symptoms more severe in
    homozygotes.
  • Small muscles of the hands and feet, wrist
    extensors, and the dorsiflexors of the foot are
    affected.
  • The course is slowly progressive.

19
Ocular muscular dystrophy
  • Typically an autosomal dominant disorder,
    although recessive and sporadic cases also occur.
  • Some cases are associated with deletions in
    mitochondrial DNA.
  • Onset is usually before age 30 years.

20
Ocular muscular dystrophy
  • Ptosis is the early manifestations, but
    progressive external ophthalmoplegia subsequently
    develops.
  • facial weakness is also common, and subclinical
    involvement of limb muscles may occur.
  • The course is slowly progressive.

21
Congenital muscular dystrophy
  • Develops in infants.
  • Generalized muscle weakness.
  • possible joint deformities from shortening of
    muscles.
  • progresses very slowly.
  • life span may be shortened.

22
Paraspinal muscular dystrophy
  • some of whom may have a family history of the
    disorder.
  • develop after age of 40 in patients with either
    gender.

23
Paraspinal muscular dystrophy
  • Progressive paraspinal weakness. Back pain and a
    marked kyphosis are characteristic.
  • The CPK is mildly elevated.
  • CT scans show fatty replacement of paraspinal
    muscles.

24
Diagnosis and prevention
  • Family history, clinical features.
  • Serum CK values.
  • EMG.
  • Muscle biopsy.
  • Differential diagnosis.
  • Carrier and prenatal diagnosis by DNA probe is
    sometimes available and can be acted upon.

25
  • (?)?????????????(Kugelberg-Welander??????)
  • 1.?????????????
  • 2.?????,????????????,?????,????,??????
    (fasciculation)?
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  • (?)???????
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  • 2.???????????
  • 3.?????????????
  • 4.????????????

26
????? (periodic paralysis)
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27
Definition
  • Periodic paralysis is characterized by episodes
    of flaccid weakness or paralysis with alterations
    in serum potassium levels.
  • among a group of disorders known as skeletal
    muscle channelopathies.
  • according to which, they be divided to three
    groups
  • hypokalemic periodic paralysis
  • hyperkalemic periodic paralysis
  • normokalemic periodic paralysis

28
Hypokalemic periodic paralysis Etiology
  • an autosomal dominant condition.
  • a mutation on chromosome 1q32 encoding
    dihydropyridine receptor a-1 subunit.
  • affect a L-type calcium channel (CACNL1A3).

29
Hypokalemic periodic paralysis Etiology
  • the weakness results from an abnormality of
    muscle membrane excitability.
  • in contrast to the reaction of normal muscle
    fibers, an increased influx of potassium causes
    the muscle fibers to become depolarized and
    inexcitable.

30
Hypokalemic periodic paralysis Pathology
  • Vacuoles
  • ????????????????

31
Hypokalemic periodic paralysis Clinical
manifestation
  • infancy to 30 years.
  • on awakening, after exercises or a heavy meal.
  • may last for several days.
  • severe generalized weakness with periods of
    paralysis affecting arms, legs and neck.
  • Strength is normal between attacks.
  • sometimes associated with thyrotoxicosis.

32
Hypokalemic periodic paralysis Investigations
  • Low levels of the plasma potassium.
  • altered levels of T3, T4, TSH in some patients.
  • abnormal ECG????????,U???,P-R???Q-T????,S-T?????

33
Hypokalemic periodic paralysisDiagnosis and
differential diagnosis
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  • ????????,?????????????????,??????????????????
    ???????????????

34
Hypokalemic periodic paralysis Prevention and
treatment
  • High potassium and low natrium diet.
  • Acetazolamide or oral potassium supplements often
    prevent attacks.
  • ongoing attacks may be absorbed by potassium
    chloride given orally or intravenously.

35
????? (Inflammatory myopathies )
  • vPolymyositis (PM)
  • v Dermotomyositis (DM)
  • Mitochondril myopathies

36
Definition
  • Polymyositis and dermatomyositis are
    characterized by destruction of muscle fibers and
    inflammatory infiltrations of muscles.

37
Etiology
  • PM is a cell mediated autoimmune disease.
  • DM is a humoral factor (antibody and complement)
    mediated autoimmune disease.

38
Pathology
  • Muscle biopsy muscle fiber necrosis and
    infiltration with inflammatory cells.
  • Skin changes in DM.

39
Clinical manifestations
  • Initiates sub-acutely.
  • present in the fourth to fifth decade.
  • female affected more than male.
  • progresses at variable rate.
  • weakness and wasting, especially of the proximal
    limb and girdle muscles.
  • Pain and tenderness may also occur.

40
Clinical manifestations
  • often associated with muscle pain, tenderness,
    dysphagia, and respiratory difficulties.
  • Raynauds phenomenon, arthralgia, malaise, weight
    loss, and a low-grade fever round out the
    clinical picture.
  • associated with various autoimmune disorders,
    including scleroderma, lupus, erythematosus,
    rheumatoid arthritis, and Sjogrens syndrome.
  • there is a definite correlation between DM and
    cancer (gt 40j).

41
Investigation
  • raised erythrocyte sedimentation rate (ESR).
  • serum CPK is generally elevated.
  • EMG, myopathic.
  • Muscular biopsy.
  • autoantibodies, e.g. antinuclear Abs, rheumatoid
    factor etc. (25).

42
Diagnosis and differential diagnosis
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  • CPK?????.
  • EMG?????.
  • Muscular biopsy.
  • with or without other autoimmune diseases and/or
    pernicious tumors.

43
Treatment
  • Treatment with anti-inflammatory drugs.
  • Prednisone is commonly used in an initial dose of
    60-80 mg/d, along with potassium supplements and
    frequent antacids if necessary.
  • As improvement occurs and serum CPK decline, the
    dose is gradually tapered to maintenance levels
    that usually ranges between 10 and 20 mg/d.

44
Treatment
  • Patients may need to continue this regimen for
    2-3 years, however too rapid reduction in dose
    may lead to relapse.
  • Cytotoxic drugs such as azathioprine have also
    been used, either alone or along with
    corticosteriods.

45
Treatment
  • Methotrexate may be useful in corticosteriod-resis
    tant patients.
  • Physical therapy may help to prevent contractures
    and hasten the recovery.

46
Myotonic disorders
  • Myotonic dystrophy, MD
  • Congenital myotonia

47
Myotonic dystrophy Definition
  • myotonia describes delayed relaxation of muscles
    after contraction, or persistent contraction
    after percussion of the belly of a muscle, which
    leads to apparent muscle stiffness.

48
Etiology
Myotonic distrophy Myotonia congenita
dominant inherited dominant trait
The gene defect is an expanded trinucleotide (CTG) repeat in a gene localized to 19q13.3. a mutation on chromosome 7.
49
Myotonic dystrophy Clinical manifestation
  • manifest in the third or fourth decade.
  • myotonia.
  • muscle weakness and wasting of the facial,
    sternomastoid, and distal limb muscles.
  • multisystemic cataracts, frontal baldness,
    testicular atrophy, dysphagia, diabetes mellitus,
    cardiac and respiratory abnormalities, mental
    retardation and excessive sleeping.

50
Investigation
  • EMG of affected muscle may reveal characteristic
    high-frequency discharges of potentials that wax
    and wane in amplitude and frequency.
  • producing over the EMG loudspeaker a sound like
    that of a bomber or chain-saw.
  • serum CK normal to mildly elevated.

51
Diagnosis
  • ???,????????????????????????
  • Gene analysis expanded trinucleotide CTG repeat
    forms is specific.

52
Treatment
  • Myotonia can be treated with quinine sulfate,
    300-400 mg t.i.d. procainamide, 0.5-1 g q.q.d
    or phenytoin, 100 mg t.i.d.
  • There is no treatment for the weakness that
    occurs.
  • pharmacologic maneuvers do not influence the
    natural history.

53
Congenital myotonia
  • Generalized myotonia without weakness.
  • Muscle stiffness and hypertrophy are of feature.
  • A recessive form with later onset is associated
    with slight weakness and atrophy of distal
    muscles.
  • Treatment with quinine sulfate, procainamide,
    tocainide, or phenytoin may help the mytonia.
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