Processing a new diagnosis
A diagnosis of LGMD can be a huge shock for the person with the condition, parents, siblings, extended family members and friends. It is normal to feel an overwhelming mix of grief, confusion, anxiety, loneliness and helplessness as your family’s life has been forever changed. Everyone will have different ways of getting through this time but it’s important to know that help and support are available for you, your child and family. Hear advice on processing your diagnosis from a community member with shared experience.
Getting help processing a new diagnosis
There are many ways you can seek support as you process a new diagnosis:
- A psychologist is a university-qualified health professional who can help you talk about your thoughts and feelings to understand and cope with the challenges you and your family are facing. Visit our page on Psychology for more information.
- A counsellor is a trained professional who can help you talk about and work through problems. Visit our page on Counselling for more information.
- A social worker can provide information and support to people experiencing a range of issues including family problems, anxiety, depression, crisis and trauma. Visit our page on Social Work for more information.
- A genetic counsellor can help you understand how LGMD is inherited and whether there are any implications for other members of your family. Your specialist will be able to advise whether a genetic counsellor is required. Visit our page on Genetic Counselling for more information.
- Your state or territory neuromuscular organisation can provide support, advice and information about living with LGMD. Visit our page on state and territory neuromuscular organisations for more information.
- Your GP can talk to you about a mental health plan and how you can use this to help you access the support and services you need. Visit our page on Wellbeing for more information.
- Other people and families living with LGMD have also experienced the emotional rollercoaster that comes with a diagnosis of LGMD and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with LGMD in The Loop Community on our Forum.
How to talk to your child and others about a new diagnosis
Having a conversation with a loved one about a diagnosis of LGMD, is not easy, in fact it will probably be one of the hardest talks you will have. But, like all difficult conversations it is important and necessary.
There are many reasons why people may not want to have this conversation, mostly centred on wanting to protect and not upset their loved ones and themselves.
But, avoiding the topic is not helpful. People may have noticed differences and changes that have occurred and/or heard the condition being discussed.
So it’s crucial that you have a role in your loved one learning about their/your diagnosis. This will enable you to support them as they process the information, allow you to be on hand to answer any questions they may have and together you can learn about the journey ahead. Also, if you are the person with the condition it will provide you with support and someone to talk to.
It will also allow you to:
- Provide answers to questions in an age appropriate way
- Correct any misinformation they have heard or read
- Show them that you have faith in their ability to handle difficult conversations.
There is no right time to start this conversation. Research suggests the earlier you talk to your loved ones about your/their condition, the more natural the conversation will become. The important part is to pick a time and commit to it.
Some important do’s and don’ts:
- Do be positive but also realistic.
- Do reassure them that no one has done anything wrong and this is not their fault.
- Do tell them they/you will do many wonderful things in their/your life – they/you may just do them differently.
- Do tell the truth. Answer all their questions.
- Do consider your language. Try to avoid negative or emotive words, such as ‘suffering from a condition’.
- Do use daily living examples that they can relate to.
- Don’t avoid answering questions and don’t shut the conversation down.
If you are having difficulty starting the conversation, just ask a couple of questions such as ‘How are you feeling today?’ or ‘Do you know why you/they are having difficulty with your/their muscles?’
Remember it’s okay to be upset during the conversation but try to avoid breaking down as this will only cause greater distress. And if speaking with a child, remember children are resilient and they generally handle information of this nature far better than adults.
Understanding LGMD and how it’s diagnosed
About LGMD
Limb girdle muscular dystrophy (LGMD) is the common name for a group of muscular dystrophies (a group of diseases that cause your muscles to become progressively weaker) that affect the pelvic (hip) and shoulder areas. The limb girdles are the groups of bones making up the shoulder and pelvic areas, and it is the weakness and atrophy (wasting) of the muscles connected to the limb girdles that has given LGMD its name.
What causes LGMD?
LGMD is a genetic condition caused by changes to certain genes (the parts of our cells that tell our cells to produce various proteins). A fault in a gene, such as missing or incorrect information, is also called a mutation. The genes associated with LGMD normally make proteins that play a vital role in how muscles function and repair. When one of these genes contains a mutation, the cells cannot produce the proteins needed for healthy muscles. Gradually the muscles become weaker and people will begin to experience the symptoms of LGMD.
Dozens of different mutated genes have been shown to cause the specific subtypes of LGMD1 and LGMD2. In about one in four cases of LGMD, the mutated gene is not yet known and therefore the subtype has not been identified.
How is LGMD diagnosed?
Diagnosis usually begins with a doctor (a neurologist) taking a full medical history, a family history and a clinical assessment. The doctor will ask questions about the age of onset of symptoms, the type of symptoms experienced, the persons progression through the developmental milestones, and if relevant, any issues a person is experiencing with their mobility such as if they are tripping/falling, are they have difficulty climbing stairs or how easy they can get off the floor etc.
Tests that your doctor may use to assist with the diagnosis of LGMD include:
- Muscle enzyme blood test – testing the creatine kinase (CK) level. This test can also be useful for indicating the subtype of LGMD as the degree of CK elevation can help differentiate between different subtypes.
- Electromyogram (EMG) – this test involves inserting small needles into the muscles to measure their electrical activity. An EMG will detect the presence of myotonia in a high portion of people with DM.
- Magnetic Resonance Imaging (MRI) scan - used to identify muscles for biopsy and show doctors the pattern of muscle involvement
- Genetic testing - this type of blood test looks for the specific genetic changes that cause LGMD. Further information about genetic testing can be found on the Healthdirect website.
- Muscle biopsy – sometimes doctors will remove a tiny piece of muscle for examination under a microscope to see if there are abnormalities of the muscle fibres.
The first three tests listed above (CK test, EMG and MRI) help narrow down which genes and proteins should be examined in the biopsy and genetic test.
Once a diagnosis is made, it can be possible to also identify the subtype of LGMD through clinical assessment. Different subtypes can be diagnosed by features such as involvement of the cardiac (heart) and respiratory (breathing) systems, presence of muscle hypertrophy (muscle enlargement), contractures (muscle shortening) and scapular winging (shoulder blades sticking out due to shoulder muscle weakness).
LGMD subtypes
There are 2 main types of LGMD, Type 1 and Type 2, however there are currently there are more than 20 different known subtypes. The subtypes of LGMD each differ in their age of onset, their severity, the progression of the condition, the symptoms experienced and how they are inherited.
Once a diagnosis or LGMD is made, further testing will help identify the subtype. The types of LGMD are generally classified by letters and numbers that indicate which faulty gene is known or suspected to be involved.
Ten Most Common LGMD and Their Features
LGMD Type: 1A
Gene affected: myotilin
Age of onset: Adult
Breathing usually affected: No
Heart usually affected: Yes
Comments:
- Vary Rare
- Mutations in this gene also cause myofibrillar myopathy
- Speech and swallowing difficulties common
LGMD Type: 1B
Gene affected: lamin A/C
Age of onset: 5 to 20 years
Breathing usually affected: Yes
Heart usually affected: Yes
Comments:
- Mutations in this gene also cause Emery-Dreifuss muscular dystrophy and congenital muscular dystrophy
- Usually slow progression
- Contractures common
LGMD Type: 1C
Gene affected: caveolin 3
Age of onset: Any age
Breathing usually affected: No
Heart usually affected: No
Comments:
- May have weakness in distal muscles (feet, ankles, calves, hands and wrists) and 'rippling muscle disease'
- Cramps and muscle pain after exercise are common
- Usually slow progression
LGMD Type: 2A
Gene affected: calpain 3
Age of onset: Early teens usually, can range from 2 to 50 years of age
Breathing usually affected: No
Heart usually affected: No
Comments:
- A common form of LGMD worldwide
- Not usually very rapidly progressive
- Joint contractures may be present
LGMD Type: 2B
Gene affected: dysferlin
Age of onset: 15 - 25 usually (variable)
Breathing usually affected: No
Heart usually affected: No
Comments:
- Usually slow progression
- Muscle pain and swelling in calves can be present
LGMD Type: 2C, 2D, 2E, 2F (sarcoglycanopathies)
Gene affected: gamma, alpha, beta or delta sarcoglycan
Age of onset: Usually in childhood
Breathing usually affected: Yes
Heart usually affected: Yes
Comments:
- Rate of progression of the condition is extremely variable
- Joint contractures and scoliosis may be present
LGMD Type: 2I
Gene affected: FKRP
Age of onset: 10 to 20 years (may be earlier or later, with a range from two to 40 years).
Breathing usually affected: Yes
Heart usually affected: Yes
Comments:
- Common in the UK and Northern Europe
- Rate of progression of the condition is extremely variable
- Joint contractures may be present
Source: Muscular Dystrophy Australia – Limb Girdle factsheet.
The genetics of LGMD
LGMD’s are classified as Type 1 or Type 2. This classification is based on how they are inherited.
Type 1 or LGMD1
- Less common than Type 2
- Inherited in an autosomal dominant pattern, with a few rare exceptions, meaning it only takes one mutated gene from a parent to pass on the condition
- The single faulty gene is sufficient to over-ride the normal functioning copy of the gene inherited from the other parent
- The chance of passing on an autosomal dominant condition to an offspring is 50% or 1 in 2.
Type 2 or LGMD2
- Makes up about 90% of the LGMDs
- Is inherited in an autosomal recessive pattern, meaning a person with LGMD2 has inherited 2 faulty genes, one from their mother and one from their father
- The parents are known as carriers as they each carry one copy of the faulty gene but typically do not show signs and symptoms of the condition as the other ‘normal’ copy of the gene is enough to prevent the condition developing
- For carrier parents to have a child with LGMD Type 2, both parents must pass the altered gene on to their child
- If both parents are carriers the likelihood of a child inheriting the condition is 25% or 1 in 4.
Long-term outlook
At this time, progression in each type of LGMD cannot be predicted with certainty. Some forms of LGMD progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability.
The progression of the condition and its impact differs between subtypes so knowing the underlying genetic mutation can be helpful in predicting the course of the condition.
Generally, it is thought that the earlier LGMD appears the faster the progression and the greater disability a person will experience. When the condition begins in adolescence or adulthood, it does not tend to be as severe, progression is slower and people are more likely to have a normal life expectancy.
As progression of the condition is unpredictable, early identification and intervention can greatly assist in the management and progression of LGMD.
For more information about living with LGMD, overcoming some of the day-to-day challenges and where to get the right support, visit:
