This document discusses different types of muscle disease. It begins by describing the anatomy of skeletal muscle and defining muscle disease as any primary disease of the muscular system related to changes in the muscles. It then outlines six main types of muscle disease: muscular dystrophies, myotonic myopathies and disorders, inflammatory muscle diseases, myasthenic muscle diseases, metabolic myopathies, and endocranial myopathies. Within each type, several specific conditions are described in brief, including Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and distal muscular dystrophy. The document provides details on clinical features, investigations, and treatment for some of the major muscular dyst

1. Muscle disease
Myopathy
By Mohamed A. Tarek
Assistant lecturer of Neurology
Sohag University Hospitals

2. • Anatomy
• Definition
• Types
• Scheme
• Muscular
dystrophies

3. Anatomy

4. Anatomy of Skeletal Muscle :

7. any primary muscle disease in which the patient's
symptoms and/or signs are related to the muscular
system ,and are attributed to changes which occur in
the muscles themselves.
Definition:

8. I) Muscular dystrophies:
Types of Muscle disease:
X-linked AD AR
- Duchenne (DMD)
- Becker (BMD)
- Limb girdle MD Type 1
- Facioscapulohumeral (FSH)
- Oculopharyngeal MD
- Myotonia dystrophica
- Limb girdle MD Type 2
- Distal MD

9. II) Myotonic myopathies & disorders:
- Myotonia congenita.
- Myotonia dystrophica.
- Paramyotonia.
Types of muscle disease :

10. III) Inflammatory muscle diseases:
may be due to
1-Infective agents
viral: -(HIV) - coxsackie A and B viruses. -influenza.
bacterial : -Staph aureus pyomyositis
fungal
Protozoal: Toxoplasmosis
2-Idiopathic
* Polymyositis
* Dermatomyositis
*Inclusion body myositis
3-Drug induced : (corticosteroids; AZT; statins; colchicine; amiodarone; cocaine).
4-Collagen disease, immune deficiency states
5-Malignancies

11. IV) Myasthenic muscle diseases:
1-Myasthenia gravis
2-Congenital myasthenia
3-Neonatal myasthenia
4. Drug induced myasthenia
5. Symptomatic myasthenia
Types of muscle disease :

12. V) Metabolic myopathies:
1-Metabolic bone diseases
2-Chronic renal.failure
3-Glycogen storage disease
4. Lipid storage disease
5. Periodic paralysis syndrome
6. Drugs & toxins
7-Alcoholic myopathies
8-Malignant hyperpyrexia
9. Malignant neuroleptic syndrome
10. Nutritional myopathies
Types of muscle disease :

13. VI) Endocranial myopathies:
A-Thyroid gland diseases:
-Hypothyroidism -Hyperthyroidism
B-Pituitary gland diseases:
-Conn’s syndrome. -Addison’s disease
C-Cushing disease
D-Steroid myopathy
Types of muscle disease :

14. History:
-Proximal leg weakness→ difficulty in getting up from the ground, getting off of
toilet, getting out of car.
-Proximal arm weakness → difficulty in lifting or carrying objects, combing hair,
wearing clothes.
-Symmetrical weakness→
N.B weakness restricted to one side or one limb is rare to be caused by myopathy.
-Intact sensations →
N.B actual sensory loss or changes should not occur with myopathy.
N.B: There are other symptoms which suggest muscle disease (e.g. fatigue, cramps, and
stiffness)
Scheme for clinical picture of muscle disease in general :

15. On examination , the followings can be detected:
1) Power → symmetrical, bilateral, proximal weakness.
2) Reflexes → decreased.
3) Tone → decreased.
4) Muscle state → may be normal, pseudo hypertrophy , or wasted.
5) Sensations are intact.
6) Weakness of pelvic girdle muscles → waddling gait and/or Gower’s sign.
7) Weakness of shoulder girdle muscles → slopping of the shoulder, winging of
the scapula.
Examination :

16. -CPK :
is usually elevated in most types.
-EMG :
shows features of myopathy
Investigations:

17. MUSCULAR DYSTROPHIES
X-linked AD AR
-Duchenne (DMD)
- Becker (BMD)
- Limb girdle MD Type 1
- Facioscapulohumeral (FSH)
- Oculopharyngeal MD
- Myotonia dystrophica
- Limb girdle MD Type 2
- Distal MD

18. Definition :
It is a recessive x-linked form of muscular dystrophy.
Prevalence:
affecting 1 / 3600 boys
Duchenne Muscular Dystrophy (DMD)

20. Normal Mutated dystrophin

26. • Usually appear in male children < 5 years
and may be visible in early infancy.
• Progressive proximal muscle weakness
of the legs and pelvis associated with a loss of
muscle mass is observed first inability to climb
the stairs then weakness spreads to the arms,
neck, and other areas, low endurance, and
difficulties in standing unaided or inability to
ascend staircases.
Clinical picture:

27. • The weakness is of L.M.N. nature
i.e. it is associated with wasting, hypotonia,
hyporeflexia. The weakness and wasting are bilateral,
symmetrical and proximal more than distal i.e., the
shoulder and arm are more affected than the forearm
and hand and the hip and thigh are more affected than
the leg and foot.
• Pseudohypertrophy develops as the condition
progresses, muscle tissue experiences wasting and is
eventually replaced by fat and fibrotic tissue (fibrosis).
Pseudo hypertrophy affect mainly the gluteus maximus,
quadriceps and calf muscles in the L.L., and the deltoid,
supra and infra spinatus muscles in the U.L
Clinical Picture :

28. The weakness and wasting of the shoulder, pelvic girdle and trunk muscles results in:
a) Winging of the scapulae due to weakness of the serratus anterior and trapezius.
b) Pot-belly abdomen due to weakness of the abdominal muscles.
c) Exaggerated lumbar lordosis due to weakness of the extensor muscles of the trunk .
d) Waddling gait due to weakness of the gluteus medius & minimus (abductors of the hip).
e) Characteristic manner in getting up from the floor (climbing test or Gower's sign) due to weakness of the
gluteus maximus
Clinical Picture :

29. Winging of the scapulae

31. Gower’s sign

33. There is selectivity of the involved muscles e.g., there is atrophy of the sternal
head of the pectoralis major with preservation of its clavicular head.
- In the upper limbs → deltoid and triceps are spared.
- In the lower limbs → calf muscles are spared.
• Later on there are fibrosis and contractures of the affected muscles resulting
in skeletal deformities e.g. pes cavus and talipes equinus.
• No mentality changes, sensory changes or sphincteric disturbances

34. 1-Deformities (particularly kyphosis).
Permanent, progressive disability manifested as decreased mobility or decreased
ability to care for self.
2-Cardiomyopathy.
3-Pneumonia or other respiratory infections.
4-Respiratory failure.
Complications:

35. 1-Creatine phospho kinase (CPK-MM) :
levels in the bloodstream are extremely high.
2-An electromyography (EMG):
small MUP, polyphasesity, early recruitement which denote muscle disease.
3-DNA testing :
DNA testing confirms the diagnosis in most cases.
A muscle biopsy confirms the absence of dystrophin, although improvements in
genetic testing often make this unnecessary.
4-E.C.G. changes, histological changes in the heart due to associated
cardiomyopathy.
5-Prenatal tests: via Chorion villus sampling (CVS) ,Amniocentesis or Fetal blood
sampling
Investigations:

36. Supportive treatment may be of value e.g. :
1) Some vitamins (e.g. vitamin E).
2) Physiotherapy is of value in delaying :the
march of weakness.&onset of contractures
and skeletal deformity.
3) Wearing light spinal supports and specific
shoes are of value in delaying skeletal
deformities.
Treatment:

37. 4) Ventilatory support “assisted respiration “is needed
in late terminal stages when respiratory failure worsen
the course of the disease .
5) Psychological support.
6) Infrequent course of methyl predinsolone
“1mg/kg/day”in short
periods may be of value in transient improvement of
power.
7)Dealing with complications e.g. bed sores pneumonia.
8)Genetic counseling before marriage and limitation of
intermarriage between families of closed relations to
minimize born of further affected siblings
Treatment :

38. Gene Therapy :
1-Eteplirsen ($750,000 and $1.5m a year)
is a phosphorodiamidate morpholino oligomer that
binds to dystrophin gene pre-mRNA and induces
exon 51 skipping .
Skipping this exon restores the open reading frame
that is disrupted by certain dys- trophin
mutations.
2-Ataluren targets the estimated 11% of boys with
a nonsense mutation, promoting ribosomal read-
through of the stop codon.
New hope :

40. • Duchenne muscular dystrophy is a progressive
disease which eventually affects all voluntary
muscles and involves the heart and breathing
muscles in later stages.
The life expectancy is currently estimated to be
around 25
Prognosis:

41. Definition:
• Is a recessive X-linked form of muscular dystrophy affecting
around 3 to 6 in 100,000 male births which results in muscle
degeneration and weakness.
Genetics:
• Becker muscular dystrophy is related to Duchenne muscular
dystrophy in that both result from a mutation in the
dystrophin gene, but in Duchenne muscular dystrophy no
functional dystrophin is produced making DMD much more
severe than BMD.
Becker muscular dystrophy (BMD)

43. - Age of onset 20-30 years.
- This is a heterogeneous group of conditions that usually appear in adolescence or adult
life with proximal limb weakness. The weakness usually progresses slowly, but it may
arrest spontaneously.
- May start scapulohumeral or pelvifemoral.
- There are at least 15 different mutations that contribute to LGMD .
- Some of them are AR , others are AD.
- CPK is moderately elevated or normal in chronic cases.
Limb-girdle muscular dystrophy

44. - AD
- Initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms
(humeral).
- it is widely stated to be the third most common genetic disease of skeletal muscle.
• Symptoms may develop in early childhood and are usually noticeable in the teenage
years
• A progressive skeletal muscle weakness usually develops in other areas of the body as
well; often the weakness is asymmetrical.
• Life expectancy is normal, but up to 15% of affected individuals become severely disabled
and eventually must use a wheel chair .
Facioscapulohumeral muscular dystrophy

45. Facioscapulohumeral muscular dystrophy

46. Facioscapulohumeral muscular dystrophy

47. - Older age of onset (40-60 years).
- Weakness begins in small muscles of the hands and feet → finally spreads to
involve
proximal muscles.
Distal Muscular Dystrophy

48. EMAIL : m.a.tarek91@gmail.com
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