Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function. PMA is classified among motor neuron diseases (MND) where it is thought to account for around 4% of all MND cases.PMA affects only the lower motor neurons, in contrast to amyotrophic lateral sclerosis (ALS), the most common MND, which affects both the upper and lower motor neurons, or primary lateral sclerosis, another MND, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than ALS. Signs and symptoms
As a result of lower motor neuron degeneration, the symptoms of PMA include:
muscle weakness
muscle atrophy
fasciculationsSome patients have symptoms restricted only to the arms or legs (or in some cases just one of either). These cases are referred to as flail limb (either flail arm or flail leg) and are associated with a better prognosis. Diagnosis
PMA is a diagnosis of exclusion, there is no specific test which can conclusively establish whether a patient has the condition. Instead, a number of other possibilities have to be ruled out, such as multifocal motor neuropathy or spinal muscular atrophy. Tests used in the diagnostic process include MRI, clinical examination, and EMG.
Orthopnea or orthopnoea is shortness of breath (dyspnea) that occurs when lying flat, causing the person to have to sleep propped up in bed or sitting in a chair. It is commonly seen as a late manifestation of heart failure, resulting from fluid redistribution into the central circulation, causing an increase in pulmonary capillary pressure and causing difficulty in breathing. It is also seen in cases of abdominal obesity or pulmonary disease. Orthopnea is the opposite of platypnea, shortness of breath that worsens when sitting or standing upright. Causes
Orthopnea is often a symptom of left ventricular heart failure and/or cardiogenic pulmonary edema. It can also occur in those with asthma and chronic bronchitis, as well as those with sleep apnea or panic disorder. It is also as associated with polycystic liver disease. From a neuromuscular perspective, orthopnea is potentially a sign of severe diaphragmatic weakness. Under such circumstances, patients may describe shortness of breath when they bend over (e.g. when tying shoelaces), called bendopnea. Mechanism
Orthopnea is due to increased distribution of blood to the pulmonary circulation when a person lies flat or closer to a horizontal position. Lying flat decreases the inhibitory effect that the gravity usually has on the blood when coming back to the heart from the lower extremities of the body. This increases the right sided venous return.