Condition Lookup
Category:
Neuromuscular Disorders
Number of Conditions: 6
Myasthenia Gravis
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
muscle weakness; drooping eyelids (ptosis); double vision (diplopia); difficulty swallowing (dysphagia); trouble speaking (dysarthria); fatigue with repetitive activity
Root Cause:
Autoimmune disorder where antibodies disrupt communication between nerves and muscles by targeting acetylcholine receptors or associated proteins.
How it's Diagnosed: videos
Clinical exam, acetylcholine receptor antibody test, repetitive nerve stimulation, single-fiber electromyography (EMG), CT or MRI for thymoma screening.
Treatment:
Symptomatic treatment with cholinesterase inhibitors, immunosuppressive therapy, thymectomy (if thymoma present), and plasma exchange or intravenous immunoglobulin (IVIG) for severe cases.
Medications:
Pyridostigmine (cholinesterase inhibitor), corticosteroids like prednisone , immunosuppressants such as azathioprine or mycophenolate mofetil, monoclonal antibodies like eculizumab .
Prevalence:
How common the health condition is within a specific population.
Affects 14-20 per 100,000 people; more common in women under 40 and men over 60.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, thymoma, other autoimmune disorders (e.g., lupus, rheumatoid arthritis).
Prognosis:
The expected outcome or course of the condition over time.
Chronic but manageable with treatment; symptoms can remit, particularly after thymectomy in thymoma-associated cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Myasthenic crisis (life-threatening respiratory failure), increased infection risk due to immunosuppressive treatments.
Lambert-Eaton Myasthenic Syndrome (LEMS)
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
muscle weakness; fatigue; dry mouth; difficulty walking; reduced reflexes; autonomic symptoms such as erectile dysfunction or constipation
Root Cause:
Autoimmune attack on voltage-gated calcium channels at the neuromuscular junction, reducing acetylcholine release. Often associated with small cell lung cancer.
How it's Diagnosed: videos
Antibody testing (anti-VGCC antibodies), nerve conduction studies, electromyography (EMG), CT or PET scans for cancer screening.
Treatment:
Treat underlying cancer (if present), symptomatic management with potassium channel blockers (e.g., amifampridine), immunosuppressive therapies, IVIG or plasma exchange.
Medications:
Amifampridine (potassium channel blocker), corticosteroids, azathioprine , IVIG for severe cases.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 2-10 per million people; associated with cancer in 50-60% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Small cell lung cancer, other autoimmune conditions, genetic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Depends on cancer presence; improves with cancer treatment and immunotherapy. Without cancer, chronic but manageable.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe muscle weakness, respiratory failure, complications from associated malignancies.
Duchenne Muscular Dystrophy (DMD)
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
progressive muscle weakness; delayed motor milestones; frequent falls; gower's sign; calf pseudohypertrophy; respiratory and cardiac complications in later stages
Root Cause:
Genetic mutation in the dystrophin gene, leading to absence of dystrophin protein and muscle cell degeneration.
How it's Diagnosed: videos
Genetic testing (dystrophin gene mutation), muscle biopsy (absence of dystrophin), elevated creatine kinase (CK) levels.
Treatment:
Supportive care, corticosteroids to slow progression, cardiac and respiratory care, physical therapy.
Medications:
Prednisone , deflazacort (corticosteroids), eteplirsen (exon-skipping therapy for specific mutations).
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 3,500-5,000 male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Male sex (X-linked inheritance), family history of DMD.
Prognosis:
The expected outcome or course of the condition over time.
Progressive disorder; life expectancy improved to 30s-40s with advanced care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, cardiomyopathy, scoliosis, loss of ambulation.
Becker Muscular Dystrophy (BMD)
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
progressive muscle weakness; difficulty walking; delayed motor skills; cardiomyopathy in later stages
Root Cause:
Genetic mutation in the dystrophin gene causing partially functional dystrophin protein.
How it's Diagnosed: videos
Genetic testing (dystrophin gene mutation), muscle biopsy, elevated creatine kinase (CK) levels.
Treatment:
Symptomatic management, physical therapy, cardiac care, corticosteroids.
Medications:
Prednisone , deflazacort , cardiac medications like ACE inhibitors or beta-blockers for cardiomyopathy.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 18,000 male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Male sex (X-linked inheritance), family history of BMD.
Prognosis:
The expected outcome or course of the condition over time.
Slower progression than DMD; life expectancy into 40s-60s with proper management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiomyopathy, respiratory insufficiency, muscle atrophy.
Spinal Muscular Atrophy (SMA)
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
muscle weakness; difficulty swallowing; difficulty breathing; loss of motor skills; poor muscle tone; delayed physical milestones
Root Cause:
Genetic mutation in the SMN1 gene leads to insufficient production of the SMN protein, essential for motor neuron survival.
How it's Diagnosed: videos
Genetic testing to identify SMN1 mutations; electromyography (EMG) and nerve conduction studies; muscle biopsy in rare cases.
Treatment:
Physical therapy, respiratory support, nutritional support, and medications targeting SMN protein production.
Medications:
Spinraza (nusinersen , an antisense oligonucleotide that increases SMN protein levels), Zolgensma (onasemnogene abeparvovec-xioi , a gene therapy delivering functional SMN1 gene), and Evrysdi (risdiplam , an oral medication that enhances SMN2 gene protein production).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 10,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of SMA; autosomal recessive inheritance pattern.
Prognosis:
The expected outcome or course of the condition over time.
Varies by type and early intervention; Type I (severe) has a poorer prognosis, while Types II and III have improved outcomes with treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, scoliosis, joint contractures, and reduced mobility.
Myopathies (e.g., Inclusion Body Myositis, Polymyositis)
Specialty: Neurology
Category: Neuromuscular Disorders
Symptoms:
progressive muscle weakness; difficulty swallowing; muscle pain; fatigue; loss of fine motor control
Root Cause:
Inflammatory or degenerative processes affecting muscle fibers, often involving autoimmune or genetic factors.
How it's Diagnosed: videos
Muscle biopsy, creatine kinase (CK) level measurement, MRI of muscles, and electromyography (EMG).
Treatment:
Immunosuppressive therapies, physical therapy, and management of complications such as dysphagia.
Medications:
Corticosteroids (e.g., prednisone , an anti-inflammatory), immunosuppressants (e.g., azathioprine , methotrexate ), and intravenous immunoglobulin (IVIG, modulates immune response).
Prevalence:
How common the health condition is within a specific population.
Polymyositis is rare, affecting approximately 1 in 100,000 people annually; Inclusion Body Myositis primarily affects individuals over 50.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune disorders, age (older adults for Inclusion Body Myositis), and certain genetic predispositions.
Prognosis:
The expected outcome or course of the condition over time.
Progressive, with varying rates of progression; Inclusion Body Myositis is resistant to most treatments.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, difficulty swallowing, and severe muscle weakness leading to immobility.