The Question is from neet-zoology locomotion-and-movement disorders-of-muscular-and-skeltal-system, and it was created by the author K SUNKANNA

Question

A patient presents with progressive muscle weakness and wasting, primarily affecting the pelvic and shoulder girdle muscles.  Genetic testing reveals a mutation affecting a protein involved in maintaining the integrity of the muscle cell membrane. Which of the following is the MOST likely diagnosis?

K SUNKANNA · Accepted Answer

## CORE INFORMATION
✓ **Answer**: C
## CONCEPT FRAMEWORK
 **Primary Concept**: Muscular dystrophies
 **Related Topics**: Genetic disorders, muscle cell biology, clinical presentation of muscle diseases
 **Prerequisites**: Understanding of different types of muscular dystrophies and their characteristic features.
## SOLUTION PATHWAY
**Given Information**:
  Progressive muscle weakness and wasting
  Primarily affects pelvic and shoulder girdle muscles
  Genetic mutation affecting muscle cell membrane protein
  
**Method & Steps**:
 1. Analyze the symptoms: Progressive muscle weakness and wasting primarily affecting the pelvic and shoulder girdle muscles point towards a muscular dystrophy.
  Reasoning: This pattern of muscle involvement is characteristic of certain types of muscular dystrophy.
  
 2. Consider the genetic basis: A mutation affecting a protein involved in maintaining the integrity of the muscle cell membrane strongly suggests a muscular dystrophy, as these diseases often stem from defects in proteins crucial for muscle fiber structure and function.
  Working:  The information points directly to a genetic defect affecting the structural integrity of muscle cells.
  Key Point:  The location of the muscle weakness (proximal muscles) is important in differentiating between various types of muscular dystrophies.
 3. Determine the most likely diagnosis: Among the options, limb-girdle muscular dystrophy best fits the described clinical presentation and genetic finding.
  Result: Limb-girdle muscular dystrophy
  Verification:  Limb-girdle muscular dystrophies are a group of genetic disorders characterized by progressive weakness and wasting of the proximal muscles of the limbs (pelvic and shoulder girdles), consistent with the patient's symptoms. The genetic component aligns with the finding of a mutation affecting a muscle membrane protein.
 ## OPTION ANALYSIS
A :x: Duchenne muscular dystrophy primarily affects males and often presents earlier in childhood with more rapid progression.  While it involves progressive muscle weakness, the specific pattern of muscle involvement differs.
B :x: Myasthenia gravis is an autoimmune disorder causing fluctuating muscle weakness and fatigue, not progressive muscle wasting. It doesn't typically show a specific pattern of muscle involvement like the one described.
C ✓: Limb-girdle muscular dystrophy is a group of genetic disorders affecting the pelvic and shoulder girdle muscles, perfectly matching the patient's presentation and the genetic finding.
D :x: Osteogenesis imperfecta is a disorder affecting bone formation, not muscle. It does not cause progressive muscle weakness and wasting.
 ## LEARNING AIDS
 **Common Mistakes**:
  1.Confusing the clinical presentations of different types of muscular dystrophies:  Careful consideration of the age of onset, pattern of muscle weakness, and rate of progression is crucial for accurate diagnosis.
  2.Overlooking the genetic basis of the disease:  Understanding the genetic mechanisms involved in muscular dystrophies is essential for accurate diagnosis and management.
 **Quick Tips**:
  1.Remember the characteristic muscle involvement patterns in different muscular dystrophies to aid in differential diagnosis.
  2.Associate genetic mutations with specific protein defects to understand the underlying pathophysiology of the disease.

K SUNKANNA · Answer

Duchenne muscular dystrophy

K SUNKANNA · Answer

Myasthenia gravis

K SUNKANNA · Answer

The correct Option is "Limb-girdle muscular dystrophy"

K SUNKANNA · Answer

Osteogenesis imperfecta

NEET Zoology Locomotion And Movement Disorders Of Muscular And Skeltal System MCQs

Select Topic

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

Question Tags

NEET Subjects

Our Bots

Company