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.