This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).
The distal myopathies are caused by deficiency or lack of specific proteins that play an essential role in the proper function and health of muscle cells. Laing distal myopathy is caused by mutations in the beta cardiac myosin (MYH7) gene located on the long arm (q) of chromosome 14 (14q12).
Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well. Intellect isn't affected in this disease.
A high index of clinical suspicion is required to diagnose a distal myopathy in a patient with gradual-onset distal weakness and no sensory disturbance. The most important differential diagnoses include peripheral neuropathies and anterior horn cell disorders.
Muscle weakness can also be classified as either "proximal" or "distal" based on the location of the muscles that it affects. Proximal muscle weakness affects muscles closest to the body's midline, while distal muscle weakness affects muscles further out on the limbs.
Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.
Proximal myopathy presents as symmetrical weakness of proximal upper and/or lower limbs. There is a broad range of underlying causes including drugs, alcohol, thyroid disease, osteomalacia, idiopathic inflammatory myopathies (IIM), hereditary myopathies, malignancy, infections and sarcoidosis.
Myasthenia gravis is a chronic autoimmune, neuromuscular disease that causes weakness in the skeletal muscles (the muscles that connect to your bones and contract to allow body movement in the arms and legs, and allow for breathing).
MG presents with weakness, which tends to increase with repetitive movement. Classically, facial and bulbar muscles are affected, leading to ptosis and diplopia in the majority of patients. This weakness usually progresses to generalized weakness in the proximal limb and trunk muscles.
A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus.
Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders.
The diseases most frequently mistaken for muscular dystrophy were polymyositis and the syndrome of "benign hypotonia." Polymyositis, with its protean manifestations and variable course, may mimic all of the forms of muscular dystrophy so closely that differentiation becomes especially difficult.
Myasthenia gravis. Myopathy. Myositis, including polymyositis and dermatomyositis.
Myasthenia gravis is a rare long-term condition that causes muscle weakness. It most commonly affects the muscles that control the eyes and eyelids, facial expressions, chewing, swallowing and speaking. But it can affect most parts of the body.
The symptoms of MG often consist of muscle fatigability with the myasthenic complaining of worsening of symptoms later in the day after their muscles have been fatigued or after being repetitively exercised. Usually, weakness of the eye muscle is the first noticeable symptom.
Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). DD causes weakness that starts in the lower arms and legs (the distal muscles). It then may gradually spread to affect other parts of your body. The muscles shrink (atrophy).
Doctors use a blood test to look for elevated levels of a substance called creatine kinase, which is released into the bloodstream when muscle fibers deteriorate. Elevated levels may mean you have an inflammatory myopathy.
Beware: there are other diseases that mimic myasthenia gravis. A number of disorders may mimic MG, including generalized fatigue, amyotrophic lateral sclerosis (ALS), Lambert-Eaton myasthenic syndrome, botulism, penicillamine-induced myasthenia, and congenital myasthenic syndromes.
Autoimmune disorders that specifically affect the muscles, joints, and nerves include rheumatoid arthritis (RA) and multiple sclerosis (MS). Polymyalgia rheumatica, which also involves the joints, is thought to be an autoimmune condition, according to the Arthritis Foundation.
The proximal and distal pattern of weakness and slightly elevated CK can be seen in a motor neuron disorder (e.g., adult-onset spinal muscular atrophy). However, the EMG suggests a myopathy.
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. These disorders vary in age of onset, severity, and pattern of affected muscles.
Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity.