Distal Myopathy: Causes, Symptoms, Complications, And Treatment

Distal myopathy is also known by the name of distal muscular dystrophy can be described as a rare genetic disorder that is both dominant and recessive in its nature. It is a subcategory of a group of genetic disorders known as muscular dystrophies. Its progress of development in an individual body is very slow, making it hard to diagnose at the early stages of life.

Its key characteristic is weakness and wasting (atrophy) voluntary distal and proximal muscles. The nature of the disease is so unpredictable that it can trigger at any time of life.

Distal muscles are muscles far from the central body. It is generally found in hands, feet, lower arms, and legs. On the other hand, proximal muscles are closer to the center. It is found in the upper arms, shoulder, pelvis, and legs.

Summary: Distal myopathy is a rare genetic disorder that weakens and wastes (atrophy) voluntary distal and proximal muscles. It is both dominant and recessive in its nature.

Symptoms of distal myopathies vary as each of its roots has different reasons for the development. Each of them is strongly associated with muscular weakness. The weakness and degradation can be differentiated on the basis of their location, severity, duration, and the age at which its key symptoms start to affect.

1. Welander Distal Myopathy:

   Most of the symptoms that are experienced by the patient start from the hands (intrinsic muscles and long extensors) and later reach to the legs (extensors) and to the rest of the body. Most of the patients with a form of distal myopathy are greater or equal to 40 years of age:

   • Muscle weakness and degeneration
   • The slow progression of muscle
2. Laing Distal Myopathy (Laing Early-Onset Distal Myopathy; Distal Myopathy 1; MPD1):

   This form of distal myopathy is seen within patients around the age of 5 to 10 years. It is different from any distal myopathy as it has a distinct pattern that specifically affects the muscles of the ankles and great toes. It is rare, but sometimes one may experience the below symptoms in other parts of the body like neck and facial muscles:

   • Muscle weakness and degeneration.
   • Weak flexion.
   • Delays in achieving the normal walking milestone.
3. Miyoshi Myopathy:

   This form of distal myopathy is seen within patients around the age of 15 to 30 years. Patients may experience the symptoms in the leg muscles including calves ( gastrocnemius, anterior tibia, and soleus), upper leg, hands, forearms, and shoulder:

   • Weakness and degeneration of muscles
   • Pseudohypertrophy
   • Difficulty in walking or pursuing basic life activity associated with feet.
4. Udd Distal Myopathy (Tibial Distal Myopathy):

   This form of distal myopathy is seen within patients around the age of 35 years. The symptoms are generally seen within the lower limb area starting from the ankles to the shinbone (tibia):

   • Foot drop.
   • Long extensors of the toes.
   • Difficulty in walking or pursuing basic life activity associated with feet.
   • Muscle weakness.
5. Inclusion Body Myopathy Type 2 (IBM2; Distal Myopathy with Rimmed Vacuoles (DMRV); Nonaka Myopathy):

   This form of distal myopathy is seen within patients around the age of 10 to 40 years. It mostly started to show its effects during the early twenties. The following symptoms initially affect the muscles of the hands, shoulders, face, and neck which later damage the upper legs including the thigh and hamstrings:

   • Progressive weakness and degeneration of the distal muscles
   • Gait disturbances
   • Foot drop

   Symptoms of Miyoshi myopathy often get confused with another genetic disorder called limb-girdle muscular dystrophy type 2B (LGMD2B). This is caused because of the same mutation found in the same gene known by the name of dysferlin. Some patients have been reported to get infected by both of the genetic disorders.

6. Distal Myopathy with Vocal Cord and Pharyngeal Signs (Distal Myopathy 2; MPD2):

   MPD2 is the rarest form of distal myopathy as it has only been seen in one family bloodline.

   Degeneration and weakness of the distal muscles can be seen in feet and shoulder, hand muscles. The same type of weakness can also be experienced in muscles of the throat which may lead to dysphagia and aspiration.

7. Distal Myopathy 3 (MPD3):

   This form of distal myopathy is seen within patients around the age of 32 to 45 years. Patients may experience the symptoms in the distal and proximal muscles of the leg.

   • Weakness and degeneration of muscles.
   • Difficulty in walking or pursuing basic life activity associated with feet.

Summary: Symptoms of distal myopathies are different in each subcategory, they are strongly associated with muscular weakness.

Distal Myopathy and all forms are both autosomal dominant and recessive in nature. Each of its subdivisions is caused by a different genetic mutation which can only be developed by inheritance.

An autosomal dominant is a pattern of inheritance where affected individuals possess one copy of a mutant gene (autosomal chromosomes) and one copy of the normal gene. An individual with autosomal dominant diseases is the mutant gene that will get transferred to your offspring.

On the other hand, autosomal recessive disease is a pattern of inheritance where the affected individual possesses two copies of the mutant gene. This disorder is only transferred when both of the partners have the identical genetic mutation. This can also happen if one copy of the gene is dominant and one copy is recessive.

The chances of getting affected by the genetic mutation can be different, for example, there is a 25% chance that a child may turn out to be normal with no mutation whatsoever or become get affected with two recessive genes, but in this case, there is a 50% chance that the offspring will become a carrier of the disease with no such medical condition.

Coming back to the genetic mutation, here is the list of faulty gene which is responsible for the following subdivision:

• Laing distal myopathy: caused by beta cardiac myosin (MYH7) gene mutation which can be found on the long arm (q) of chromosome 14 (14q12).
• Udd distal myopathy: caused by mutations of the titin (TTN) gene which is found in the long arm of chromosome 2 (2q24.3).
• Inclusion body myopathy type 2 (DMRV): caused by mutations of GNE gene found in the short arm of chromosome 9 (9p12-p11).
• Miyoshi myopathy: caused by mutations of the dysferlin (DYSF) gene found on the short arm of chromosome 2 (2p13.3-p13.1).
• Welander distal myopathy: the root cause of the mutation is still under research however scientist has found its links to the short arm of chromosome 2 (2p13).
• Distal myopathy with vocal cord and pharyngeal signs: Even though its root cause is still under the shade, medical studies have found it linked to the long arm of chromosome 5 (5q).
• Distal myopathy 3: another unknown gene default that is linked to either the short or long arm of chromosome 8 (8p22-q12) or chromosome 12 (12q13-q22).

Summary: The main cause behind the development of this genetic disorder varies from person to person. However, research has found out that it is an autosomal recessive and dominant disorder, which can happen if one or both parents have active or inactive default genes.

Since the defaulty gene responsible for this mutation is hard to detect. One can only diagnose the disease only when the child is born. Your medical professional will examine the child and match the symptoms. The newborn will be kept under observation for a few days where the doctors conduct all the testing and medical care.

Summary: Physical assessment is done by your medical practitioner followed by the analysis of your medical history and family background.

It is a genetic disease. It is inherited by your parents’ genes. It can’t be cured or prevented. The impact of the disease can be managed by appointing an expert. He will examine your current health condition and prescribe you the best possible treatment to reduce the severity of the disease.

Summary: Distal Myopathy is impossible to prevent in an individual. This is because the nature of the disease is genetic.

Diseases like Distal Myopathy can’t be treated by any form of medical procedure as of now. But, the treatments that are advised in this case mainly focus on each problem. It includes medication, therapy, and other treatments. So it is recommended to consult your medical professional in case you find any symptoms in your child.

Summary: Distal Myopathy needs to be addressed immediately as it can cause major damage to your vision if not taken care of on time.

No, genetic deformities like Distal Myopathy does not go away on their own because it is inherited by an individual since birth.

In the case of Distal Myopathy, the treatment only focus on managing the disease as the genetic disorder can not be cured. This is because the disease can only be inherited by one or both the parents to the offspring.

Summary: There is no specific treatment plan designed to treat this medical condition. In the case of Distal Myopathy, the focus should be on symptoms to lower the impact of the disease.

To maintain good health, a complete and proper diet should be followed. However, to treat the disease, no specific diet plan is followed. Diet is maintained to follow a healthy lifestyle not to treat inherited disorders.

There is no specific diet designed for Distal Myopathy. However, you can ask your medical professional if any specific food requirements that you need to avoid during treatment.

There are no fixed side effects of treatment provided for distal myopathy. This is because a genetic disorder is a condition that is inherited by the parents. This makes it hard to even control or manage so if you are allergic to any of the elements present in the medication only then it will cause any reaction.

Summary: The treatment itself does not show any specific side effect in an individual, but it can be possible to have some. So if you experience any discomfort, contact your medical professional immediately.

Urgent care helps you with early detection and easy management of diseases like Distal Myopathy. It is a genetic disease that will only escalate its effects if not managed on time.

There is no recovery period for genetic diseases like Distal Myopathy because the genetics that is responsible for fat production and distribution has the mutation which causes an imbalance in overall fat distribution fat through your body.

Summary: It is difficult to determine the recovery time of this disease because of the nature of the disease.

The collective cost of Distal Myopathy every year a be approximately around 5-7 lac which includes consultations, therapies, surgery, and supporting medication that helps to eliminate the discomfort associated with the disease.

Summary: Medical consultation can range from INR 500 to INR 2000 per hour. Medication or surgery separate can cost you around 5 to 7 lac which can fluctuate under external circumstances.

Distal Myopathy cannot be cured or managed by any form of Distal Myopathy. The nature of the disease cannot be altered with the help of some physical exercise. But one can keep a healthy fitness regime in order to maintain adequate physical health.

Summary: Physical exercise cannot cure Distal Myopathy. However, your doctor will ask you to indulge in some to be healthy.

There is no medication available to cure Distal Myopathy. But your doctor will design treatment plans which include medications that are suitable to treat your surface symptoms.

Summary: There is no cure for genetic disorders like Distal Myopathy. But your doctor will let you the best possible treatment to relieve you from the discomfort and pain of the disease.

The treatment of Distal Myopathy cannot show any permanent results. In such cases, one may get relapse if the treatment is postponed on eliminated at any point in time in your life. It is crucial to go as per the plan as genetic disorders are hard to manage.

Summary: Treatment of genetic disorders like Distal Myopathy is not possible, there is no 100% recovery for this. But the treatment plan advised under these conditions may help you get relief from the discomfort.

Genetic disorders like Distal Myopathy do not have any form of treatment that can cure the disease. So there is no alternative that can be used in order to control the surface signs of the disease.

Summary: At present, there is no alternative to cure diseases like Distal Myopathy as it is a genetic disorder. Also, a treatment focusing on the symptoms does not have any specific alternative.

Patients showing symptoms of Distal Myopathy are eligible for the treatment. Also, people with the same set of symptoms mentioned above can consult a doctor for diagnosis and treatment plans.

People who are not suffering from Distal Myopathy are not eligible for the treatment.

Since there is no cure for the disease the treatment of Distal Myopathy will go as long as the person survives. For the post-treatment guidelines, you need to consult your doctor from time to time. Contact your doctor if you witness anything unusual after undergoing the treatment.

Summary: Distal myopathy is known as a rare genetic abnormality. It can also be recognized under the name of distal muscular dystrophy. The disease is dominant and recessive in its nature. Its key characteristic is weakness and wasting (atrophy) voluntary distal and proximal muscles. Symptoms of distal myopathies vary as each of its roots has different reasons for the development. DNA manipulation behind Distal Myopathy has not been researched yet. But medical professionals have found some therapeutic treatments that can help you manage the disease.