Muscular DystrophyMuscular Dystrophy

Kate DeAngelisAP Biology

1/6/09

Kate DeAngelisAP Biology

1/6/09

Intro to Muscular DystrophyIntro to Muscular Dystrophy

Aka: MD or inherited myopathy Discovered by: Sir Charles Bell in

1830.

Aka: MD or inherited myopathy Discovered by: Sir Charles Bell in

1830.

Mode of InheritanceMode of Inheritance X-linked recessive: trait is carried on one of the two-paired

genes on the X chromosome Duchenne MD

Autosomal recessive: both parents must be carriers of the affected gene Type 2 Limb-girdle MD Congenital MD

Autosomal dominant: carrier of one affected gene will manifest the trait Type 1 Limb-girdle MD Myotonic dystrophy And others

X-linked recessive: trait is carried on one of the two-paired genes on the X chromosome Duchenne MD

Autosomal recessive: both parents must be carriers of the affected gene Type 2 Limb-girdle MD Congenital MD

Autosomal dominant: carrier of one affected gene will manifest the trait Type 1 Limb-girdle MD Myotonic dystrophy And others

Clinical DescriptionClinical Description Muscle weakness; apparent lack of

coordination; progressive crippling Frequent falls; large calf muscles;

difficulty getting up from lying down; waddling gait; mild mental retardation

Most commonly found in males Some cases are fatal

Muscle weakness; apparent lack of coordination; progressive crippling

Frequent falls; large calf muscles; difficulty getting up from lying down; waddling gait; mild mental retardation

Most commonly found in males Some cases are fatal

TreatmentTreatment Exercise and strength conditioning Medications used to help manage muscle spasms

and pain Assistive devices

Walkers Canes Wheelchair

Surgery: release the contractures that may develop

Not cure yet :(

Exercise and strength conditioning Medications used to help manage muscle spasms

and pain Assistive devices

Walkers Canes Wheelchair

Surgery: release the contractures that may develop

Not cure yet :(

DetectionDetection

Genetic counseling Muscle biopsies Electromyography or nerve

conduction tests Blood enzyme tests

Genetic counseling Muscle biopsies Electromyography or nerve

conduction tests Blood enzyme tests

Legal IssuesLegal Issues Some cases are fatal Physicians may be biased to

certain treatments Most treatments improve the

quality of the patients life, but do not prevent loss of muscle function

Some cases are fatal Physicians may be biased to

certain treatments Most treatments improve the

quality of the patients life, but do not prevent loss of muscle function

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