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What is Muscular Dystrophy? Causes, Symptoms & Treatment

Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju
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Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju

Genetic disorders are widespread among people of different ages and genders. These diseases usually are impossible to treat. It is possible to improve the quality of life with the help of corrective treatment programs. 

Muscular dystrophy is one of the most severe pathologies. The clinical picture is always influenced by the severity of the disease and its form. Some patients complain of slight muscle weakness. Others become completely disabled, losing mobility. Common manifestations include muscle weakness, difficulty walking, frequent falls, and respiratory problems. 

While there is currently no cure for muscular dystrophy, various treatments and therapies aim to manage signs. They can slow disease progression and improve quality of life. Understanding what muscular dystrophy is is crucial for early diagnosis and intervention. This will enable individuals and their families to cope effectively with the challenges of the disease.

What is Muscular Dystrophy? 

This disease refers to a group of genetic disorders. It is generally characterized by progressive weakening and degeneration of muscle tissue. This condition results from mutations in genes responsible for the structure and function of muscles. Muscular dystrophy can affect individuals of all ages. Its severity varies depending on the specific type and individual factors.

There are several types of muscular dystrophy, each with distinct characteristics. Duchenne muscular dystrophy (DMD) is the most common and severe form. It is typically diagnosed in childhood, leading to progressive muscle weakness and loss of mobility. Becker muscular dystrophy (BMD) is similar to DMD but progresses more slowly and tends to have a later onset.

Other types include myotonic and facioscapulohumeral muscular dystrophy (FSHD). Also, they involve limb-girdle muscular dystrophy (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). Each has unique patterns of muscle weakness and inheritance patterns. There is currently no cure for muscular dystrophy. Various treatments and therapies can help manage symptoms and improve quality of life.

Muscular Dystrophy Causes 

Knowing the muscular dystrophy causes is crucial. It helps to unravel the complexities of this genetic disorder. Muscular dystrophy arises from genetic mutations. It interferes with the production of proteins necessary for muscle health. These mutations lead to progressive muscle weakness and degeneration over time. The specific genetic alterations vary among different types of muscular dystrophy. They all result in the characteristic symptoms of the condition. Delving into the underlying causes provides insights crucial for diagnosis and treatment strategies.

Inherited traits

These causes of muscular dystrophy are also known as hereditary characteristics. They are features or qualities passed down from parents to offspring through genes. These traits encompass physical attributes. These include eye color, hair texture, height, and susceptibility to certain diseases or behaviors. The combination of genes determines inherited traits. They are usually inherited from both parents during reproduction. Some characteristics may be observable. Others may be latent or expressed only under specific circumstances. Understanding heritable traits is fundamental to understanding patterns of genetic inheritance and diversity. It is observable in populations over generations.

Spontaneous mutations

Such mutations are genetic alterations. They occur spontaneously, without any known external cause or trigger. In muscular dystrophy, spontaneous mutations can arise in genes. They produce proteins crucial for muscle structure and function. These mutations disrupt the normal functioning of muscle cells. It leads to progressive weakening and degeneration, characteristic of muscular dystrophy. However, some forms are usually inherited through genetic transmission from parents. Spontaneous mutations can also be a contributing factor in the development of the condition. Understanding the role of spontaneous mutations in the causes of muscular dystrophy is essential. It helps elucidate the complex genetic mechanisms underlying the disorder.

Environmental factors

These factors can influence the progression and severity of muscular dystrophy. Genetic mutations are the primary cause of the condition. Exposure to toxins, infections, and certain medications may exacerbate signs. Also, they can accelerate disease progression. Access to healthcare, physical activity levels, and socioeconomic status can impact the management. Also, these circumstances can affect the outcomes of muscular dystrophy. Understanding the role of such factors in developing and managing this disease is essential. They help to optimize cure strategies and improve outcomes for patients.

Muscular Dystrophy Symptoms

Common signs include a range of manifestations. They indicate progressive weakening and degeneration of muscle fibers. Manifestations vary in severity and presentation depending on the specific muscular dystrophy type. They commonly include muscle weakness, stiffness, and wasting. Individuals may also experience difficulties with mobility, coordination, and breathing. Understanding the diverse array of early signs of muscular dystrophy is crucial. It helps in early detection, intervention, and management of the condition.

Muscle Weakness

This is always characterized by the gradual and progressive loss of muscle strength over time. Affected individuals experience difficulty performing everyday tasks requiring muscle movement. Among them are lifting objects, climbing stairs, or getting up from a seated position. Muscle weakness typically begins in the hips, pelvis, thighs, and shoulders. It is gradually spreading to other muscle groups. This weakness can significantly impact mobility and independence. It leads to challenges in walking, standing, and maintaining balance. Understanding and addressing muscle weakness are essential to managing muscular dystrophy. Also, it is vital for improving the quality of life for affected individuals.

Delayed Motor Milestones

They are a hallmark sign of muscular dystrophy. It indicates the progressive weakening and degeneration of muscle fibers. Children affected by muscular dystrophy often experience delays in achieving developmental milestones. Among them are sitting, crawling, standing, and walking. These delays may be subtle initially but become more apparent over time as muscle weakness progresses. Monitoring developmental milestones closely is essential for early detection and intervention. Timely diagnosis and management can help optimize outcomes. Recognizing the significance of muscular dystrophy symptoms facilitates prompt intervention and support.

X-linked recessive inheritance

Certain types of muscular dystrophy, such as DMD, are usually inherited in an X-linked recessive pattern. This means the faulty gene responsible for the condition is directly on the X chromosome. Males are more commonly affected than females.

Spontaneous mutations

In some cases, individuals may develop muscular dystrophy. This is due to spontaneous mutations in the egg or sperm cells or during early fetal development. These mutations can lead to the development of the condition in individuals with no family history of muscular dystrophy.

Respiratory Difficulties

Muscular dystrophy signs often include respiratory difficulties. They can range from mild to severe, depending on the type and progression of the condition. Weakness and degeneration of the muscles involved in breathing can lead to problems. Among them are shortness of breath, shallow breathing, and respiratory infections. In advanced stages of muscular dystrophy, individuals may require respiratory support. They need assisted ventilation. Monitoring and managing muscular dystrophy symptoms like respiratory difficulties are essential. It helps maintain the quality of life.

Muscular Dystrophy Risk Factors

Common risk factors encompass genetic and environmental factors. They may increase the likelihood of developing the condition. Here are key considerations:

  • Genetic Mutations: They play a significant role in predisposing individuals to this condition. These mutations affect genes that produce proteins essential for muscle structure and function.
  • Family History: A family history of muscular dystrophy increases the risk of inheriting the condition. Individuals who have close relatives with muscular dystrophy are more likely to develop the disease.
  • Gender: Duchenne muscular dystrophy primarily affects males. Females can still carry the genetic mutation and pass it on to their offspring.
  • Age: Muscular dystrophy can affect individuals of all ages. Symptoms often manifest in childhood or adolescence. Certain types, like late-onset muscular dystrophy, may present later in adulthood.
  • Environmental Factors: Some exposures are yet unexplored. They may influence the development or progression of muscular dystrophy. Further research is necessary to elucidate these potential risk factors.

Understanding muscular dystrophy risk factors is essential for identifying individuals at higher risk. Also, it is vital to implement appropriate screening and preventive measures.

Muscular Dystrophy Diagnosis

Diagnosis involves a thorough evaluation and diagnostic process. It helps to confirm the presence of the condition. Here are the critical aspects of the diagnostic procedure:

Diagnostic Method Description
Physical Examination Thorough use of this method by a healthcare provider may reveal signs of muscle weakness, wasting, or other characteristics.
Family History Assessment It is the patient’s family history of muscular dystrophy or related neuromuscular conditions. Such information can aid in diagnosis.
Blood Tests Such tests may measure creatine kinase (CK) levels and other muscle enzymes. They may be directly elevated in individuals with muscular dystrophy.
Genetic Testing Such testing involves analyzing DNA samples to identify specific genetic mutations. They are usually associated with different types of muscular dystrophy.
Electromyography (EMG) EMG involves inserting tiny needles into the muscles to measure electrical activity. Abnormal patterns of electrical activity may indicate muscle dysfunction.
Muscle Biopsy Such biopsy involves taking a small sample of muscle tissue for microscopic examination. It helps to assess muscle structure and identify abnormalities.
Imaging Studies MRI (Magnetic Resonance Imaging) or CT (Computed Tomography) scans can visualize muscle structure. Also, they detect abnormalities.

Combining these methods is vital. Healthcare professionals can accurately diagnose muscular dystrophy. Also, they may develop an appropriate treatment plan tailored to the patient’s needs.

Muscular Dystrophy Treatment

An effective cure plan aims to manage signs and slow disease progression. Also, it seeks to improve the quality of life for affected individuals. They can live better. Here are the critical components of muscular dystrophy treatment:

  • Physical Therapy: This method maintains muscle strength, flexibility, and mobility. Customized exercise programs help to optimize physical function and independence.
  • Respiratory Support: Respiratory muscles weaken over time. So, individuals with muscular dystrophy may require respiratory support. They need assisted ventilation or cough assistance devices. Such methods help to manage breathing difficulties and prevent respiratory complications.
  • Medications: Certain drugs aim to alleviate muscular therapy symptoms and manage complications. They are generally associated with muscular dystrophy. These may include corticosteroids to reduce inflammation and slow disease progression. Pain medications can relieve discomfort, and medications to manage cardiac and respiratory symptoms.
  • Assistive Devices: Braces, wheelchairs, orthotics, and mobility aids help maintain mobility and independence. These devices support and assist with daily activities, enhancing quality of life.
  • Nutritional Support: A balanced diet and adequate nutrition are essential for patients. It helps to maintain muscle strength and overall health. Nutritionists may provide dietary guidance and recommend supplements to address specific nutritional deficiencies.
  • Surgical Interventions: In some cases, such interferences may be necessary to address complications. Surgical procedures such as tendon release surgery or spinal fusion may improve mobility and function.
  • Gene Therapy: Emerging muscular dystrophy treatment holds promise for healing. It addresses the underlying genetic defects responsible for the condition. Gene therapy aims to deliver functional copies of defective genes to muscle cells. It potentially restores normal muscle function and slows disease progression.
  • Clinical Trials: Participation in clinical trials and research studies is crucial. They offer access to experimental therapies to advance our understanding of the condition and develop new cure plans.

Combining muscular dystrophy treatment modalities is vital. So, healthcare professionals can tailor a comprehensive healing plan. It addresses the unique needs of individuals with muscular dystrophy, improving their quality of life.

Bottom Line 

Lone Star Neurology Clinic provides comprehensive care for individuals affected by neurological conditions. It includes those diagnosed with muscular dystrophy. Our team of neurologists specializes in diagnosing and treating various neurological disorders. They include muscular dystrophy, too. We understand that each patient’s journey with muscular dystrophy is unique. Our doctors tailor treatment plans to address their specific needs and goals. We believe in empowering our patients to know what muscular dystrophy is and how it affects the body. We offer educational resources and support to help them better understand and manage the condition.


Can muscular dystrophy be cured?

As of now, muscular dystrophy is incurable. However, treatments can help manage symptoms and improve the quality of life for affected individuals.

How common is muscular dystrophy in females? 

Muscular dystrophy is less common in females compared to males. It is primarily an X-linked genetic disorder that predominantly affects males.

What is the leading cause of muscular dystrophy? 

The leading cause of muscular dystrophy is genetic mutations. It affects the production of proteins crucial for muscle structure and function.

Who might get muscular dystrophy?

Muscular dystrophy usually affects boys, but girls can also be affected in some cases. The condition is generally diagnosed in childhood or adolescence but can occur at any age.

What are the complications of muscular dystrophy?

Muscular dystrophy can cause a range of complications, including:

  • Weakness and wasting of the muscles (muscular atrophy).
  • Joint deformities.
  • Heart problems.
  • Respiratory difficulties.
  • Learning difficulties and intellectual disability.
  • Emotional issues such as depression and anxiety.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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