Related Experiment Video
Updated: Jun 11, 2026
08:25
Evaluating the Function of the Foot Core System in the Elderly
Published on: March 11, 2022
Calpainopathy presenting as foot drop in a 41 year old
1Wessex Neurological Centre, Southampton University Hospitals Trust, UK. burke_georgina@hotmail.com
Neuromuscular Disorders : NMD
|June 29, 2010
Summary
Limb girdle muscular dystrophy type 2A (calpainopathy) typically presents in childhood. This study details a rare adult case of calpainopathy presenting with foot drop, expanding the known disease phenotype.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Limb girdle muscular dystrophy type 2A (LGMD2A), or calpainopathy, is caused by mutations in the CAPN3 gene.
- The disease is characterized by progressive muscle atrophy, particularly in the pelvic, scapular, and trunk regions, often accompanied by elevated creatine kinase levels.
- Typical onset is in childhood, with many patients losing ambulation by age 40.
Observation:
- A 41-year-old man presented with isolated foot drop, a symptom not previously associated with calpainopathy.
- Comprehensive neurophysiological, histopathological, and genetic analyses were performed.
Findings:
- Genetic analysis confirmed mutations in the CAPN3 gene, consistent with calpainopathy.
- The patient's presentation with foot drop represents a novel clinical manifestation of the disease.
Implications:
- This case expands the recognized clinical spectrum of calpainopathy.
- It highlights the importance of considering calpainopathy in adult-onset muscular dystrophies, even with atypical presentations like foot drop.
- Further research may elucidate the mechanisms underlying this varied phenotype.
Related Concept Videos
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
01:31Diabetic Foot Ulcer
Definition A diabetic foot ulcer (DFU) is a chronic, non-healing wound that develops in individuals with diabetes. It typically occurs on pressure-bearing areas such as the heel, metatarsal heads, or hallux, and carries a high risk of infection and amputation.Pathophysiology • The development of DFUs can be explained by four interconnected mechanisms: neuropathy, ischemia, infection, and impaired wound healing. • Neuropathy is the most common factor. Sensory neuropathy reduces pain perception,...
01:22Diabetic Neuropathy
DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
01:11Pulse Assessment Sites
Pulse assessment sites are crucial in evaluating a patient's cardiovascular health. By assessing the pulsations of arteries at specific anatomical locations, healthcare professionals can gather valuable information about blood flow, heart rate, and peripheral circulation. Understanding these pulse assessment sites is essential for conducting comprehensive cardiovascular evaluations and monitoring patients' overall health. These sites are strategically chosen due to the accessibility and...
01:26Peripheral Artery Disease IV: Nursing Management
The nursing management of a patient with peripheral artery disease (PAD) begins with a thorough assessment of the patient’s health history and clinical manifestations.AssessmentHealth History: Evaluate the patient’s history of hypertension, hyperlipidemia, family history of cardiovascular issues, and lifestyle factors such as dietary patterns, smoking, and physical activity.Physical Examination:Assess the affected extremity for decreased or absent peripheral pulses, temperature changes,...
01:30Peripheral Artery Disease I: Introduction
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...