Chronic neurogenic quadriceps amyotrophy

Area of Science:

• Neurology
• Genetics
• Muscle Diseases

Background:

• Chronic neurogenic quadriceps amyotrophy is a rare condition characterized by progressive muscle wasting and weakness.
• Understanding its genetic basis and relationship to other neuromuscular disorders is crucial for diagnosis and management.

Observation:

• Two female patients presented with chronic, symmetrical quadriceps femoris wasting and weakness.
• Electromyography (EMG) and muscle biopsy findings indicated both neurogenic and myopathic changes in the quadriceps and other muscles.
• One patient had a family history of a more severe, widespread form of the disease.

Findings:

• The observed cases of chronic neurogenic quadriceps amyotrophy align with a forme fruste (a milder or atypical form) of Kugelberg-Welander disease.
• Neuropathic changes were confirmed via biopsy, with EMG revealing mixed neurogenic and myopathic features.

Implications:

• These findings expand the phenotypic spectrum of Kugelberg-Welander disease.
• Recognizing chronic neurogenic quadriceps amyotrophy as a potential variant aids in earlier diagnosis and genetic counseling for affected families.
• Further research into the genetic underpinnings of this amyotrophy is warranted.