Muscular Dystrophy Kate DeAngelis AP Biology 1/6/09 Kate DeAngelis AP Biology 1/6/09 Charles DeAngelis:

Intro to Muscular Dystrophy / Aka: MD or inherited myopathy / Discovered by: Sir Charles Bell in / Aka: MD or inherited myopathy / Discovered by: Sir Charles Bell in 1830.

Mode 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 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

Treatment / 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 :(

Detection / 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 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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