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Muscular Dystrophy

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Muscular dystrophy is a group of disorders recognized by progressive muscle ... Ataxia. Becker. Carnitine deficiency. Carnitine Palmityl Transferase deficiency ... – PowerPoint PPT presentation

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Title: Muscular Dystrophy


1
Muscular Dystrophy
  • Ai Sato
  • HED 330
  • Fall 2002

2
Definition
  • Muscular dystrophy is a group of disorders
    recognized by progressive muscle weakness and
    loss of muscle tissue.

3
Who Discovered Muscular Dystrophy
  • Each neuromuscular disease (muscular dystrophy)
    was discovered by different person.

4
43 Different Types of Neuromuscular Diseases
  • Acid maltase deficiency (Pompe's disease)
  • Amytrophic lateral sclerosis (ALS)
  • Ataxia
  • Becker
  • Carnitine deficiency
  • Carnitine Palmityl Transferase deficiency
  • Central core disease
  • Charcot-marie_Tooth disease
  • Congenital
  • Congenital Myasthenic syndrome
  • Debrancher enzyme deficiency (Cori's or Forbes'
    disease)
  • Dejerine-Sottas disease (progressive Hypertrophic
    interstitial neuropathy)
  • Dermatomyosis
  • Distal
  • Duchenne
  • Emery-Dreifus muscular dystrophy
  • Facioscapulohumeral

5
43 Different Types of Neuromuscular Diseases
  • Fibrodysplasia Ossificans Progressiva
  • Hyperthyroid Myopathy
  • Hypothyroid Myopathy
  • Inclusion body Myositis
  • Lactate Dehydrogenase deficiency
  • Lambert-Eaton syndrome
  • Limb girdle
  • Mitochrondrial and metabolic disorders
  • Mitochondrial Myopathy
  • Myasthenia gravis
  • Myoadenylate Deaminase deficiency
  • Myotonia Congenita (Thomsen's and Becker's
    disease)
  • Myotonic
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Oculopharyngeal muscular dystrophy  
  • Paramyotonia Congenita

6
43 Different Types of Neuromuscular Diseases
  • Polymyositis
  • Spinal bulbar muscular atrophy
  • Spinal muscular atrophy
  • Spinal muscular atrophy (type 1)
  • Spinal muscular atrophy (type 2)
  • Spinal muscular atrophy (type 3)
  • Periodic paralysis (Hypokalemic and Hyperkalemic)
  • Phosphofructokinase deficiency (Tarui's disease)
  • Phosphoglycerate Kinase deficiency
  • Phosphoglycerate Mutase deficiency
  • Phosphorylase deficiency (McArdie's disease)

7
Symptoms
  • Symptoms vary with the different types of
    muscular dystrophy. Certain types, such as
    Duchnne dystrophy, are ultimately fatal while
    other types have associated muscle weakness but
    cause little disability.

8
Symptoms
  • Intellectual retardation
  • Only present in some types of Muscular Dystrophy
  • Hypotonia
  • Skeletal deformities

9
Basic Symptoms
  • Muscle weakness
  • Progressive
  • Frequent falls
  • Delayed development of muscle skills
  • Problems walking
  • Difficulty using a muscle group (specific muscle
    depends on the type of MD)
  • Eyelid drooping
  • Drooling

10
Basic Symptoms
  • Muscle deformities
  • Contracture deformities (clubfoot, clawhand or
    others)
  • Scoliosis
  • Enlargement of the calve muscles
    (pseudohypertrophy)

11
Causes
  • Inheritance
  • Dominant genes
  • Recessive gene
  • Depends on the age when symptoms appear, and the
    types of symptoms that develop.

12
Risks
  • Because these are inherited disorders, risk
    include a family history of muscular dystrophy.

13
Prevalence
  • Types may be more prevalent in some cultures.
  • Both sexes tend to be affected equally, depending
    upon the type. 
  • Many muscular dystrophies occur in childhood,
    others occur as late as 60 years of age.

14
Diagnosis
  • Diagnosis is usually made through an EMG
    (electromyogram), a test in which the electrical
    activity in muscle is analyzed after being
    amplified, displayed, and recorded.
  • Diagnosis may also be determined through a blood
    test or muscle biopsy.  

15
Treatment
  • Stretching and range of motion exercise
  • Occupational therapy
  • Physical therapy
  • Aquatic therapy
  • Not too much exercise

16
How Many People Are Affected by Muscular Disease
  • It is estimated that between 50,000 -250,000 are
    affected annually. This number seems to be
    growing each year due to advanced technology and
    earlier testing.  

17
Prevention
  • Duchenne muscular dystrophy can be detected with
    about 95 accuracy by genetic studies performed
    during pregnancy.

18
ReferencesAngelini, C. Danieli, G.A.
Fontanari, D. (Eds.). Muscular dystrophy
research Advances and new trends. Amsterdam
Excerpta MedicaDudley, W. (Ed.). (1991).
Epidemics. San Diego Greenhaven Press.
Kittredge, M. (1990). The human body an over
view. New York CHEALSEA HOUSE PUBLISHERS.
Muscular Dystrophy Association. Retrieved
October 14,2002 from the World Wide Web
http//www.mdausa.org/Sipe, J. D., Kelly, C.
A., McNicol, L. A. (Eds.). (2002). Reparative
medicine growing tissue and organs. New York
The New York Academy of Science.
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