What are the main symptoms of nemaline myopathy?
The general symptoms of nemaline myopathy, NM, are muscle weakness, low muscle tone, and absent reflexes. The muscle weakness is usually worst in the face, neck, and shoulders, upper arms, pelvic area, and thighs (proximal muscles). Some signs associated with the muscle weakness are difficulties with eating and breathing.
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If you have nemaline myopathy will you always show symptoms?
Individuals with nemaline myopathy may not always show symptoms as some cases of nemaline myopathy have a later onset. However, once the onset of the disease occurs patients will always show signs of nemaline myopathy.
Are there different types of nemaline myopathy?
There are 10 different types of nemaline myopathy that are distinguished by which gene is the cause of the nemaline myopathy.
Are there different forms of nemaline myopathy (ie. acute vs chronic)?
There are six forms of nemaline myopathy which are classified by the time of onset and severity. Severe congenital starts at birth and is very severe. These patients have very severe muscle weakness and little to no movements. Death usually occurs early on, but there are case reports of patients who survive long-term.
Amish nemaline myopathy is so described because it is only seen within the Old Order Amish community. It is present at birth with low muscle tone, shortened muscles which lead to abnormal joints, and tremors. They progress with significant deterioration of the muscles and death occurs within 2 years due to inability to breathe.
Intermediate congenital nemaline myopathy is present shortly after birth and there are shortened muscles that lead to abnormal joints (contractures). Weakness may necessitate use of a wheelchair and breathing support by age 11.
Typical congenital nemaline myopathy has symptoms begin within the first year of life. Muscle weakness, low muscle tone, and trouble eating are the usual signs. Some patients may have difficulties with breathing but this is not true for all patients. The muscle weakness tends to progress slowly and many patients can live independent lives.
Childhood-onset nemaline myopathy shows signs and symptoms in childhood up to the 20s. There is a foot drop: difficulty lifting up the front part of the foot, which is often the first sign. Muscle weakness is slow in its progession and may eventually require a wheelchair for mobility.
Signs and symptoms of adult-onset nemaline myopathy usually do not start until 20-50 years of age. A dropped head or neck weakness or cardiomyopathy may be the first signs of the disorder. The quickness of the progression of muscle weakness is quite variable in this form.
What health problems should my doctor watch for in nemaline myopathy?
Cardiac disease can be seen in some patients with nemaline myopathy and should be watched and assessed for by doctors. Also potential problems with feeding or gastroesophageal reflux should be monitored for. Some patients may experience difficulties with breathing while sleeping and may require apparatus to assist them.
Any other diseases that look a lot like nemaline myopathy?
Nemaline myopathy is part of the collection of congenital myopathies and thereby also resembles some of them as muscle weakness is the key feature of all of them. Muscle biopsy is the best way to distinguish between the different myopathies as it can tell which specific parts of the muscles are affected.
Are there one or two characteristic “odd” or “unusual” symptoms of nemaline myopathy?
The facial features of individuals with nemaline myopathy are different due to the muscle weakness. They have a long face that appears to have no expression and a tented upper lip. Their palate inside their mouth tends to be high and their lower jaw is farther back than normal. This can help identify nemaline myopathy but may also be seen in other congenital myopathies.
Are there any prenatal signs of nemaline myopathy?
Signs such as decreased fetal movement and increased amniotic fluid have been suggested as possible signs for nemaline myopathy in the prenatal period. These findings should always be evaluated with a medical professional who specializes in high risk pregnancies.
- Kuwata, T. (2011). Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: The possible merit of fetal movement count. Obstetrics and Gynaecology Research, 921-925.