As many of you will know, I have Muscular Dystrophy. What you may not know is what rare type of Muscular Dystrophy I have. In this post, I’m going to explain all about my condition, Limb Girdle Muscular Dystrophy (LGMD) and how it affects me, and share a little background story on when/what symptoms I displayed and how I was diagnosed.
What is Limb Girdle Muscular Dystrophy (LGMD)?
Limb Girdle Muscular Dystrophy (LGMD) is a group of progressive muscle-wasting conditions with over 30 different subtypes. LGMD mainly causes wasting (atrophy) and weakness of the shoulder and pelvic girdle muscles, which are the proximal muscles of the arms and legs (around the hips, thighs and shoulders muscles). Other muscles can be affected including the heart and breathing.
The shoulder ‘girdle’ is the bony structure that surrounds the shoulder area, and the pelvic ‘girdle’ is the bony structure surrounding the hips. Together they are called the “limb girdles” and what has given this rare condition its name.
What causes Limb Girdle Muscular Dystrophy (LGMD)?
The many forms of LGMD are caused by different genetic mutations. These genes hold the instructions for making proteins that are required for muscle function (maintenance and repair).
When a mutation in the LGMD gene is present, it means the cells can’t produce the proteins needed for healthy muscle function causing progressive muscle weakness.
There are two major groups of LGMDs; LGMD1 and LGMD2. They are classified by their inheritance patterns.
Limb Girdle Muscular Dystrophy type 1 (LGMD1) have an inheritance pattern called autosomal dominant. This means an abnormal gene from one parent is enough to cause the condition.
Limb Girdle Muscular Dystrophy type 2 (LGMD2) have an inheritance pattern called autosomal recessive. This means two abnormal copies of the causative gene (one from each parent) are required for the disease to occur.
I have Limb Girdle Muscular Dystrophy type 2D which means I received the flawed gene from my Mum and Dad. At a recent hospital appointment, I was told by my specialist that it is now named LGMDR3.
There is a 25% chance of both parents passing on the abnormal gene and having an affected child.
What are the symptoms of Limb Girdle Muscular Dystrophy (LGMD)?
Symptoms of LGMD can vary between the different subtypes. The onset of symptoms can also occur during childhood or even in adulthood. The severity and progression of symptoms of LGMD also greatly vary, but it appears that progression is faster when they occur in childhood.
I began showing symptoms of LGMD in my early childhood, a few years after my older sister was diagnosed with LGMD. My sister and I had the same symptoms during our childhood and have followed similar progression throughout the years into adulthood.
Symptoms of LGMD include:
- Soreness of the muscles and joints
- Walking with a waddle
- Difficulty standing from a sitting position
- Difficulty climbing stairs
- Tiredness and soreness from walking/running/cycling etc
- Difficulty lifting arms above the head
The progression of LGMD in my case has meant that as a child I could walk, run, cycle, dress myself, I even went to Karate and dancing lessons.
Now as an adult, I cannot walk so use a powered wheelchair full-time and need help with all personal care.
Weakness in my shoulder area means that I cannot lift my arms or hold them outstretched or lift heavy objects. This means I can’t do simple tasks like wash/brush my hair and have difficulty applying my makeup. I can’t raise my arms to hug my family or scratch an itch.
The heart and breathing muscles can also be affected, leading to serious health problems. I have regular cardiology appointments where I have an electrocardiogram (ECG), echocardiogram (echo) and sleep studies to check and monitor my heart. Regular monitoring and tests with my respiratory team are also carried out.
I cannot produce a strong cough and therefore need help to do so. Having a common cold or flu can be incredibly difficult for me. I use a cough assist machine to help cough and clear secretions. Using this machine helps keep my lungs as strong as possible.
How is Limb Girdle Muscular Dystrophy (LGMD)? diagnosed?
Limb Girdle Muscular Dystrophy is diagnosed mainly by blood tests (creatine kinase level tests), muscle biopsies, and Electromyography (EMG).
My sister began showing symptoms before I did. The first thing our parents did was to make an appointment with our doctor. Initially, the doctor believed my sister just needed more activities/exercise so referred her for six months of physiotherapy.
After the six months when there was no improvement, the doctor referred her to a specialist for further investigation.
It was a long, daunting, upsetting and frustrating process of various appointments with specialists. A blood sample was taken which found Dystrophin in her blood.
Then a year or so later, I began showing the same symptoms as my sister. A blood sample was taken and confirmed I also had Muscular Dystrophy. Further tests were carried out which involved my parents providing blood samples for DNA testing.
Both my sister and I had muscle biopsies which involved removing tissue and cells from a specific muscle in our thighs. The muscle tissue was analysed and identified the exact diagnosis of Limb Girdle Muscular Dystrophy type 2D (α-sarcoglycan deficiency) (autosomal recessive).
My sister and I were both around the age of seven years old when we were diagnosed.
How is Limb Girdle Muscular Dystrophy (LGMD)? treated?
There are currently no cures for LGMD but there are treatments to help manage and ease the symptoms. However, there is ongoing research with potential promising results.
Physiotherapy is beneficial and helps strengthen the muscle groups and maintain mobility and motion in the joints. As a child up until the age of eighteen, I received weekly sessions with a physiotherapist. That stopped when I became an adult, but my Mum and partner have maintained my daily physio which includes passive stretching of my arms and legs.
Mobility aids can be used to help prevent falls and provide support for walking, access stairs etc. Walking frames, railings/grab bars, stairlifts, braces, wheelchairs with specialist seating to maintain suitable posture are also used.
As a child (before I was a full-time wheelchair user) we had a stairlift installed in our family home to help me access the upstairs where my bedroom and bathroom was (prior to having an extension built with a bedroom and wet room).
I also had Ankle Foot Orthoses (AFO), which are plastic leg splints which help keep the feet and ankles in a good position for standing/walking and prevent contractures (shortening of muscles or tendons around joints that can limit mobility).
Speech and language
Chewing and swallowing can be affected in LGMD. I can sometimes have issues with random choking and because I can’t produce a strong cough, it can be difficult to clear what has caused me to choke (when drinking or eating).
Speech and language specialists can help with dysphagia (swallowing difficulties) in adults and children with Muscular Dystrophy. They can help find safe ways to manage swallowing difficulties with exercise and treatments.
Heart and respiratory support
LGMD can affect the breathing muscles so some people may need assisted ventilation. As I’ve mentioned before, I use a cough assist machine to help me produce a strong cough and clear secretions.
The heart should be monitored regularly for any complications (abnormalities and arrhythmias). Pacemakers and medications can be used as treatments in these situations.
To find out a little more about how LGMD affects me, check out the articles below.
5 Things I Do Differently Living With Muscular Dystrophy
How I transfer to and from my wheelchair using a Molift Quick Raiser Mobile Hoist
Accessible Makeup Products For Limited Hand Ability
My Identity And How My Disability Defines Me
Am I More Than My Disability? #WhatMakesMe
My parents perspective and thoughts on having two children with LGMD.
My younger sisters perspective on growing up with two disabled siblings with Muscular Dystrophy.
My partners perspective from being in an interabled relationship.
Do you have LGMD or another form of Muscular Dystrophy? Please comment below what your experience has been like?