Muscular Dystrophy Symptoms and Characteristics

Play an AI-generated podcast conversation about this lesson

What is the primary defect in X-linked pseudohypertrophic muscular dystrophy?

Deficiency of a protein called dystrophin

Mutation of a large gene located on the short arm of X chromosome (correct)

Abnormality on the Y chromosome

Mutation of a small gene located on the long arm of X chromosome

Which of the following is a characteristic feature of Beckers muscular dystrophy?

Benign course (correct)

Intellectual retardation

Severe muscle weakness

Prominence of calves

What is the mode of inheritance of facio-scapula-humeral muscular dystrophy?

X-linked recessive

Autosomal dominant (correct)

Mitochondrial

Autosomal recessive

Limb-girdle muscular dystrophy is inherited in which pattern?

Autosomal recessive Signup and view all the answers

Which of the following endocrine disorders can cause a myopathy?

Cushing's syndrome Signup and view all the answers

What is the significance of creatine estimation in urine in children below 2 years?

It is normally present Signup and view all the answers

What is the characteristic feature of muscular dystrophy?

Progressive degeneration of skeletal muscles Signup and view all the answers

Which type of muscular dystrophy is characterized by bilateral, symmetrical, and proximal muscle weakness?

Duchenne Muscular Dystrophy Signup and view all the answers

What is the typical manner of getting up from the floor observed in patients with muscular dystrophy?

Climbing test or Gower's sign Signup and view all the answers

Which muscle group is typically spared in muscular dystrophy?

Sternomastoid muscle Signup and view all the answers

What is the term for the phenomenon of muscle wasting, accompanied by an apparent increase in muscle size due to fatty infiltration?

Pseudo-hypertrophy Signup and view all the answers

Which type of muscular dystrophy is characterized by weakness and wasting of the facial muscles, as well as the shoulder and arm muscles?

Facio-scapula-humeral Muscular Dystrophy Signup and view all the answers

What is the age of onset for Duchenne's muscular dystrophy?

Within the first 5 years of life Signup and view all the answers

What is the characteristic of Duchenne's muscular dystrophy in terms of dystrophin?

Absent dystrophin or less than 3% normal Signup and view all the answers

What type of muscular dystrophy is characterized by a severe Duchenne subtype and a benign Becker subtype?

Pelvic girdle type Signup and view all the answers

What is a characteristic of Facio-scapula-humeral muscular dystrophy?

Facio-scapula-humeral type (Landouzy and Dejerine) Signup and view all the answers

What is a complication of progressive muscular dystrophies?

Fibrosis and contractures of the affected muscles Signup and view all the answers

What is a type of limb girdle muscular dystrophy?

Distal type of Gower Signup and view all the answers