Ana Patricia Nemaline Myopathy Therapy Treatments
Recently
our daughter was diagnosed with a medical condition called Nemaline
Myophathy which is a congenital, hereditary neuromuscular
disorder that causes muscle weakness as well as the possibility of total muscle
control loss...she has to go under many treatments and therapies to include
physical and occupational therapy in order to help her reduce the effects of
her condition. This is permanent condition that she will have pretty much for
the rest of her life and we are seeking your help for the cause to raise money
for her treatments.
Recientemente
diagnosticaron a nuestra hija con una enfermedad llamada Nemaline Myophathy que
es un desorden neuromuscular congénito, hereditario que causa debilidad a los
músculos y posiblemente perdida total de uso de sus musculos. Ella tiene que ir
bajo muchos tratamientos y terapias incluyendo terapia fÃsica y ocupacional
para ayudarle a reducir los efectos de su condición. Ésta es condición
permanente que ella tendrá para el resto de su vida y estamos solicitando su
ayuda para colectar el dinero para sus tratamientos. Le damos las gracias por
adelantado por la ayuda que puedan hacer por esta causa.
Information
about Nemaline Myopathy
Nemaline
(rod) myopathies
Nemaline,
or rod, myopathies are a group of conditions which fall under the umbrella of
congenital myopathies. They are characterised by rod-like structures in the
muscle cells, and clinical features such as muscle weakness, breathing
problems, and feeding problems. There are 6 sub-groups which are defined
according to age of onset and severity.
Around 1
in 50,000 individuals are estimated to be affected, and these include both
males and females. There is currently no effective treatment or cure to halt
the progression, but management of the condition is very important and includes
physiotherapy, and where necessary the use of ventilation and/or a feeding
tube.
What is
nemaline myopathy?
Nemaline
myopathies, or rod body myopathies, are a group of conditions which fall under
the category of congenital myopathies. There are a number of different types of
rod myopathies and they affect both males and females. In the majority of cases
(90%) the condition becomes apparent at birth or early childhood, although in
very rare cases, it does not become apparent until adulthood. Rod myopathies
are estimated to affect 1 in 50,000 individuals.
What causes
it?
In the
majority of cases, a rod myopathy is inherited, although there are sometimes
sporadic cases where there are no other family members affected. There have
been mutations identified in 5 different genes, which cause a rod myopathies.
The protein products of all of these genes are involved in muscle tone and
contraction.
ACTA1 - This gene produces a protein called a- actin. Mutations in this gene account for around 15-
25% of cases. Errors in this gene are inherited in an autosomal dominant or
autosomal recessive pattern.
NEM2 - The product of this gene is a protein called
nebulin. It is thought that mutations in this gene are a common cause of
nemaline myopathy but definite statistics are unavailable. Mutations in this
gene are inherited in an autosomal recessive pattern.
TPM3 - The product of this gene is a protein called
a- Tropomyosin 3. Mutations in this gene account for
only 2-3% of affected individuals, and are inherited in an autosomal dominant
or autosomal recessive pattern.
TPM2 - This gene encodes a protein called b-Tropomyosin. Only very few individuals have been
identified with errors in this gene. Inheritance is in a autosomal dominant
pattern.
TNNT1 - This gene produces a protein called
Troponin 1. Errors in this gene have only been identified in a population of
Old Order Amish individuals. Inheritance is in an autosomal recessive pattern.
What are the
common features?
There are
six sub-groups of nemaline myopathy which are defined based on age of onset and
severity of condition, although there is a high degree of overlap between the
conditions. There does not seem to be a correlation between severity of the
condition and the gene which has the mutation.
How is it diagnosed?
· Muscle biopsy - Generally, diagnosis is made through a
muscle biopsy. A sample of muscle is taken, and examined under a microscope.
This is done in one of two ways: either a small piece of muscle is taken under
general anaesthetic or a needle biopsy is performed to remove a small sample.
Muscle from people affected by nemaline myopathy has a distinctive pattern with
thin thread- or rod-like structures in the muscle cells. It is important to
note that these structures are also seen in other, unrelated conditions. For
this reason, the muscle sample must be considered along with the physical signs
and/or molecular tests, in order for a diagnosis of nemaline myopathy to be
made. A factsheet on Muscle biopsies is available from the Information and Support Line, or from the website
at www.muscular-dystrophy.org
· Molecular testing - In families where the mutation is known
to occur in the gene for α- actin,
molecular testing is available. This involves taking a blood sample and
analysing the DNA for the presence of a mutation. The gene is "read" from end
to end, and this sequence is compared to a normal α- actin sequence. This process can take up to several
weeks to complete. Once this error has been identified in one family member, it
is possible to use this sequence to diagnose other family members.
What other tests are available?
Prenatal diagnosis - Prenatal diagnosis is available for families where the mutation has
been identified as being in the gene for α- actin, and the precise nature of the mutation established. The
technique is described in the section Molecular testing, but there are two ways
to obtain samples for testing:
· Amniocentesis is traditionally performed
at 15 to 17 weeks into the pregnancy. Using ultrasound to visualise, a needle
is inserted through the abdominal wall, and a sample of the fluid surrounding
the baby (amniotic fluid) is taken.
· Chorionic villus sampling (CVS) is carried
out at 10 to 11 weeks. This involves taking a sample of tissue from the
placenta. Results are available earlier using this technique than
amniocentesis, but the rate of spontaneous abortion is slightly higher.
Carrier testing - As with prenatal diagnosis, carrier testing is currently only
available for families where a mutation in the α- actin has been identified and characterised.
How will it progress?
The progression of these conditions is variable, and
some may progress more quickly then others. Generally it is accepted that the
earlier the onset, the more severe the condition. For children who livebeyond
the early years, only some will lose the ability to walk. Respiratory function
is thought to improve over time, with the most severe problems occurring
earlier in life.
Is there a treatment?
There is currently no effective treatment to halt the
progression of the nemaline myopathies, but management of the condition is very
important for prolonging life.
· Night time ventilation - Breathing problems are common with the
nemaline myopathies, and thus respiratory function should be regularly
monitored. A decrease in oxygen intake can lead to, among other things,
headaches, breathlessness, poor appetite and disturbed sleep. Night time
ventilation involves the use of a face mask attached to a small machine, which assists
in breathing. This aids the muscles which control breathing, and allows a
greater intake of oxygen. Night time ventilation may be beneficial to people
with a rod body myopathy, but this should be discussed fully with a consultant
to determine whether it is appropriate.
· Feeding tube (or gastrostomy) - This is a tube that goes into the stomach
through the stomach wall and enables a person to be given food and fluids by
passing them directly into the stomach via the tube. People with a myopathy may
have problems with swallowing which can lead to choking and inhalation of food.
This can results in chest infections. A feeding tube prevents this from
happening. There are a number of different types of feeding tube which are
available, and these are fitted by a short surgical procedure. A factsheet on Gastrostomy is available from the Information and
Support Line, or from the website at www.muscular-dystrophy.org
· Physiotherapy - The primary aim of an individual with a
neuromuscular disorder is to increase or at least maintain function and
mobility. Physiotherapy can assist in doing this, and it can also maintain
breathing capacity, delay the onset of curvature of the spine (scoliosis), and
help prevent the development of contractures. It is important that the
physiotherapist involved is familiar with the treatment of people with
neuromuscular disorders.
· Exercise - There is debate over whether people with
neuromuscular disorders should undertake strenuous physical exercise. Some say
that putting additional strain on already weakened muscles will cause
additional harm, whilst others believe that the exercise may increase muscle
strength. Insufficient evidence exists to support either, but it is believed
that moderate non-weight bearing exercise such as swimming, walking or peddling
may be the best solution. This sort of aerobic exercise helps to maintain a
healthy cardiovascular system and a steady weight. It is however, important
that this is discussed fully with a clinician.
· Antibiotics - Chest infections are common with the
nemaline myopathies and complications with breathing can lead to a variety of
other problems, including lethargy, headaches, and poor appetite. Antibiotics
are used to treat chest infections. There are a variety of antibiotics available,
and a GP will be able to advise on the most suitable. If there is a tendency to
chest infections it is worth considering pneumovax (prevenar in children under
two years) and the flu vaccine.
Is there a cure?
Currently there is no cure for the nemaline myopathies
although much research is being currently being conducted into the myopathies,
including the rod body myopathies. Although there is no effective treatment to
halt the progression, there are a couple of different ways in which to manage
the symptoms of the nemaline myopathies and these are outlined above.
What research is currently being done?
Researchers world-wide are exploring many avenues in
an attempt to develop more effective treatments and hopefully a cure. The
research department at the Muscular Dystrophy Campaign, regularly monitors
research advances in the congenital myopathies, and produces releases which are
sent to members when significant scientific advances occur. Email: research@muscular-dystrophy.org
Planning for the future?
Nemaline myopathies are progressive conditions which
means that the needs of individuals with the condition will change with time.
There are a number of things which should be
considered:
· Education
· Holidays
· Home adaptations
· Ventilation
· Wheelchairs
More information on any of these topics can be
obtained by contacting the Information and Support Line.
Other things to consider
· Anaesthetics - It has now been recognised that the use
of both local and general anaesthetics in people with neuromuscular disorders,
can cause a variety of different problems. Although anaesthetics are generally
well tolerated by people with a nemaline myopathy, due to the nature of the
anaesthetic drugs used, problems can include dysfunction of the heart, and
relaxation of the muscles round the lungs causing problems with breathing.
Generally if a patient is properly assessed and monitored, the risks associated
with anaesthetic use are low, but it is very important that the medical
professionals involved are fully aware of the muscle condition.
· Medical alert card - It is very important that health
professionals are aware of your condition should you require treatment. There
are often issues they will have to consider. Many companies are able to provide
a Medic Alert Card, which can be carried to advise of any medical condition.
These come in the form of bracelets, pendants etc and carry essential
information. Please contact the Information and Support Line for details of companies
that produce alert cards.
