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Muscular Dystrophy

Mechanism

X-linked Recessive

Which of the following best describes how a patient acquires muscular dystrophy?

Signs and Symptoms

Muscle Weakness

Which of the following signs and/or symptoms is most likely to be seen in a patient with muscular dystrophy?

Motor Problems

Gower Sign

Large Calves

During your assessment of a patient with muscular dystrophy, which of the following is most likely to be seen?

Waddling Gait

Loss of Ambulation

Consideration

Cardiac and Respiratory Failure

Which of the following is most likely associated with a patient who has muscular dystrophy?

Angelman's Syndrome

Paternal Imprinting

Which of the following is a genetic or chromosomal trait of Angelman's Syndrome?

Deletion of Chromosome 15q (Maternal Deletion)

Signs And Symptoms

Happy Puppet Syndrome

Which of the following is most likely used as an alternate term for Angelman's Syndrome?

Inappropriate Laughter

Which of the following is a sign or symptom of Angelman's Syndrome?

Ataxia

Severe Intellectual Disability (Mental Retardation)

Seizure

Abnormal EEG

Which of the following diagnostic test result is most likely associated with Angelman's Syndrome?

Prader-Willi Syndrome

Maternal Imprinting

Which of the following is a genetic or chromosomal trait of Prader-Willi Syndrome?

Deletion of Chromosome 15q (Paternal Deletion)

Hyperphagia

Which of the following is a sign or symptom of Prader-Willi Syndrome?

Truncal Obesity

Hypogonadism

Undescended Testicles (Cryptorchidism)

Intellectual Disability (Mental Retardation)

Neonatal Hypotonia (Floppy Baby)

Almond Shaped Eyes

Narrow Bifrontal Diameter

Thin Upper Lip

Xeroderma Pigmentosum

Presentation

Hyperpigmented Lentigines

Which of the following skin findings are present in xeroderma pigmentosum patients?

Actinic Keratosis

What is a common dermatologic finding in patients with xeroderma pigmentosum?

Defective Nucleotide Excision Repair

What type of DNA repair is defective in xeroderma pigmentosum?

Susceptible to UVA and UVB Rays

Xeroderma pigmentosum patients are susceptible to what?

Corneal Ulcers

What is a common finding on the eyes of xeroderma pigmentosum patients?

Increased Risk of Skin Cancer

Xeroderma pigmentosum patients have an increased risk to develop what type of cancer?

Pathophysiology

Photosensitivity

Xeroderma pigmentosum patients have abnormal&nbsp;sensitivity to which&nbsp;of&nbsp;the&nbsp;following?

Neurodegeneration

In xeroderma pigmentosum,&nbsp;patients present&nbsp;with&nbsp;which&nbsp;of&nbsp;the&nbsp;following?

Considerations

Autosomal Recessive

What is the inheritance pattern of xeroderma pigmentosum?&nbsp;

Pyrimidine Dimer Accumulation

What DNA lesions are present and accumulated in xeroderma pigmentosum?&nbsp;

Mutations

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