Symptoms
There are many types of muscular dystrophy. Symptoms of the most common varieties begin in childhood, but some types don't surface until adulthood. Symptoms will vary, based on the type of hereditary disorder. Common symptoms include:
Delayed growth or developmental milestones
Dysmorphic, or abnormal, body skeletal features
Learning disabilities
Slowness
Progressive weakness
Tiring easily
Common Hereditary Disorders Treated at the Muscular Dystrophy Clinic
- Becker/Duchenne muscular dystrophy
- Congenital muscular dystrophies
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Limb-girdle muscular dystrophies
- Myotonic dystrophy
- Oculopharyngeal muscular dystrophy
- ALS (amyotrophic lateral sclerosis)
- Spinal muscular atrophy
- Andersen-Tawil syndrome
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Myotonia congenita
- Paramyotonia congenita
- Friedreich’s ataxia (FA)
- Mitochondrial myopathies
- Congenital myopathies
- Distal myopathies
- Inflammatory myopathies
- Metabolic myopathies
- Congenital myasthenic syndromes
- Charcot-Marie-Tooth disease
- Hereditary Sensory and Autonomic neuropathies
Diagnosis
Diagnosis begins with your doctor gathering a detailed medical history and completing a physical examination. That is likely to be followed by:
Genetic testing with the latest sequencing method (along with free and low-cost tests) has revolutionized the diagnosis of hereditary disorders.
This involves inserting an electrode needle into the muscle. It measures electrical activity as you relax and tighten the muscle. The electrical pattern can confirm a muscle disease. We also follow some studies with high-frequency ultrasound as needed.
By referral to Cardiology and pulmonary specialists for proper examination and tests will be done if you've been diagnosed with myotonic muscular dystrophy.
