Muscular Dystrophy

Ai SatoHED 330Fall 2002

Definition

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

Who Discovered Muscular Dystrophy

Each neuromuscular disease (muscular dystrophy) was discovered by different person.

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

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

43 Different Types of Neuromuscular Diseases Periodic paralysis

(Hypokalemic and Hyperkalemic)

Phosphofructokinase deficiency (Tarui's disease)

Phosphoglycerate Kinase deficiency

Phosphoglycerate Mutase deficiency

Phosphorylase deficiency (McArdie's disease)

Polymyositis Spinal bulbar muscular

atrophy Spinal muscular atrophy Spinal muscular atrophy

(type 1) Spinal muscular atrophy

(type 2) Spinal muscular atrophy

(type 3)

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.

Symptoms

Intellectual retardation Only present in some types

of Muscular Dystrophy Hypotonia Skeletal deformities

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

Basic Symptoms Muscle deformities Contracture deformities

(clubfoot, clawhand or others) Scoliosis Enlargement of the calve

muscles (pseudohypertrophy)

Causes

Inheritance Dominant genes Recessive gene Depends on the age when

symptoms appear, and the types of symptoms that develop.

Risks

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

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.

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.  

Treatment Stretching and range of

motion exercise Occupational therapy Physical therapy Aquatic therapy Not too much exercise

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.  

Prevention

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

ReferencesAngelini, C. & Danieli, G.A. & Fontanari, D. (Eds.). Muscular dystrophy research: Advances and new trends. Amsterdam: Excerpta Medica

Dudley, 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.