101 Questions About MD

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Q1. What is muscular dystrophy?

A. Muscular dystrophy is the name applied to a group of diseases that are, for the most part, genetically determined and that cause gradual wasting of muscle with accompanying weakness and deformity.

Q2. Are these diseases contagious?

A. No.

Q3. What is the common kind of muscular dystrophy, the type that affects young boys?

A. This form of the disease is called Duchenne muscular dystrophy. Symptoms usually appear between the ages of two and six. It was first described by Duchenne, a french physician, in 1861.

Q4. What are the first clinical signs of Duchenne muscular dystrophy?

A. The first signs of weakness usually are (1) delayed onset of walking, (2) difficulty in performing a standing jump, (3) a waddling gait, (4) difficulty in rising from the floor.

Q5. What are some of the later clinical signs of weakness in Duchenne muscular dystrophy .

A. Later signs of weakness included (1) difficulty in rising from a chair, (2) inability to climb stairs in a normal manner, (3) wide gait with difficulty in balance.

Q6. How is muscular Dystrophy transmitted?

A. Musular dystrophy is transmitted from a parent (or parents) through an affected gene. In limb-girdle dystrophy, both parents carry such a gene, though neither has the disease. This type of muscular dystrophy can be transmitted to either a male or female child. The technical term for the inheritance pattern in limb-girdle dystrophy is "autosomal recessive".

In facioscapulohumeral dystrophy and myotonic dystrophy, at least one parent has to have the disease in order to transmit it ("autosomal dominant: inheritance pattern). This type can also be inherited by a male or female.

In Duchenne muscular dystrophy, the defective gene is carried by the female and the disease is transmitted to the male (recessive "X-linked" inheritance pattern). Each male child born to such a mother stands 50 percent risk of inheriting the disease, and each female a 50 percent risk of becoming a carrier. It should be noted that it is the father's genetic contribution that determines the sex of the child.

Q7. Is muscular dystrophy always hereditary?

A. We don't know for sure. According to many investigators, one-third of all boys with classic Duchenne muscular dystrophy are "sporadis cases", having no familial history of the disease.

Q8. What are the chances of a mother without a family history of Duchenne muscular dystrophy having a son with the disease?

A. In the population at large, the risk of Duchenne muscular dystrophy in a male child is about 1 in 3,200 live male births. The risk of a sporadic (non-hereditary) case is approximately 1 in 12,000.

Q9. Can the carrier state be detected in the mother or sister of a young boy with Duchenne Muscular Dystrophy

A. Using tests for muscle enzyme levels in the blood as well as other examinations (electromyogram, manual muscle tests, muscle biopsy), approximately 70 to 80 percent of all carriers can be identified. The younger the subject is when these tests are performed, the better the chance of detection.

Q10. What is the classification of carriers of Duchenne muscular Dystrophy?

A."Definite carriers" are mothers who have an affected son and who also have an affected brother, maternal uncle, sister's son, or other male relatives in the female line of inheritance, or who are also mothers of a second affected son by a different father not related by blood to the first. "Probable carriers" are mothers who have two or more sons with muscular dystrophy and no other affected relatives. A "possible carrier" is a mother of an isolated case, or a sister or other female relative, such as a maternal aunt, of an affected male.

Q11. If a known carrier decides to have her own children, is there some way of determining whether or not she is carrying a child with Duchenne muscular dystrophy?

A.Although there is yet no way of telling whether she is carrying a child with muscular dystrophy, the sex of the fetus can be determined by the sixteenth week of pregnancy by removing and analyzing specimen of amniotic fluid. If the child is a boy, there is a 50 percent chance of him having muscular dystrophy.

Q12. If the mother of one son with Duchenne muscular dystrophy has a normal blood level of the muscle enzyme creatine kinase (CPK), what is the risk of her daughter, who also has a normal CPK, of bearing a son with Duchenne muscular dystrophy?

A. A normal CPK level is increasingly less meaningful for carrier detection as a girl gets old, so we will assume that the daughter's CPK is determined at a fairly early stage. In that case, the risk is approximately 1 in 52 that a daughter whose CPK is normal, whose mother's CPK is normal, and whose brother has Duchenne muscular dystrophy will give birth to a dystrophic son.

Q13. If the mother of a son with Duchenne muscular dystrophy has an elevated CPK but her daughter's CPK in normal, what then is the risk to the daughter of bearing a son with Duchenne muscular dystrophy.

A.. If the mother's CPK tests is elevated, the risk that the daughter will give birth to a son with Duchenne dystrophy rises to 1 in 16, even though the daughter's CPK is normal.

Q14. Is there a late-occurring type of childhood muscular dystrophy?

A. Yes. Becker muscular dystrophy is a comparatively benign form of juvenile dystrophy with onset between 5 and 25 and relatively slow progression.

Q15. Is muscular dystrophy strictly a disease of children?

A. No. For example, limb-girdle dystrophy usually has its onset in late adolescence, and the facioscapulohumeral and myotonic types usually start in adulthood. These forms of muscular dystrophy are slower in their progression and less disabling than the childhood forms.

Q16. What are some of the early signs of adult muscular dystrophy?

A. A weak smile and inability to pucker the lips or whistle occur early in facioscapulohumeral dystrophy. Subtle weakness in the shoulders and hips occurs early in limb-girdle dystrophy. Weakness of the feet and hands and difficulty in relaxing the grip are early signs of myotonic dystrophy.

Q17. What is the incidence of muscular dystrophy (neuromuscular disease)?

A. The incidence of "Muscular Dystrophy" is estimated to be 100 per 100,000 head of population. Based on current figures (1995), it is estimated that there would be in excess of 20,000 people in Australia who have some form of neuromuscular disease. The incidence of Duchenne muscular dystrophy (DMD) is estimated to be 1 in 4,000 live male births is by far the most common form of neuromuscular disease.

Q18.In what part of the world is muscular dystrophy most common?

A.. There is no area of the world where muscular dystrophy is more prevalent than anywhere else.

Q19.What percentage of body weight is made up of muscle tissue? How much muscle tissue has to be lost before function is affected?

A. Muscle makes up 40 percent of the total body weight. Approximately 33 percent of muscle mass has to be lost for function to be impaired in large postural muscles.

Q20.What muscles are affected in muscular dystrophy?

A.. Different muscles are affected in different forms of muscular dystrophy. Although any of the 434 voluntary muscles can be affected, spinal musculature and that of the limb-girdles (shoulders and hips) are involved most frequently and, when involved, are affected earliest and most profoundly.

Q21.Can Duchenne muscular dystrophy be diagnosed at birth?

A. The clinical signs of muscular dystrophy (weakness and wasting) are usually not apparent until the child is at least several years of age. However, an elevated blood level of muscle enzyme is detectable at birth, long before clinical weakness is evident.

Q22. How can a young girl have Duchenne muscular dystrophy?

A. In theory, this could happen in several ways: (1) inactivation of the normal X-chromosome in a girl whose other X-chromosome carries the defective gene, (2) expression of an abnormal chromosomal pattern in which a girl has only X-chromosome instead of two and the gene for muscular dystrophy is on the single X-chromosome, or (3) the mating of a carrier female with an affected male (a highly unlikely possibility). Detailed examination of records has failed to confirm most reports of Duchenne dystrophy in girls. Young girls with mild cases of Duchenne-type dystrophy are almost invariable carriers manifesting minor signs of the disease that do not progress

23. Why is Duchenne muscular dystrophy also called pseudohypertrophic muscular dystrophy?

A. Because many children with Duchenne muscular dystrophy undergo slow replacement of their calf muscles by fat. This fatty replacement eventually causes enlargement of the calves, so-called pseudohypertrophy.

Q24.Is muscular dystrophy a painful disease?

A.Pain is not usually associated with muscular dystrophy.

Q25.Does the child with Duchenne muscular dystrophy have trouble breathing and swallowing?

A. Usually not. If this should happen, it would not be until very late in the disease.

Q26.Is arthritis a part of muscular dystrophy?

A. No, although patients with muscle disease can also have arthritis.

Q27.Is there any treatment for muscular dystrophy

A. We do not know what causes muscular dystrophy, and no treatment has yet been found to correct the underlying pathology or to stop the progression of the disease. Nonetheless, supportive and symptomatic aids are available; and through early diagnosis and proper therapy comfort, functional capacity, and even life expectancy can be significantly increased.

Q28. Can muscular dystrophy be diagnosed by X-ray?

A. No, although certain changes (e.g. thinning of bones and increased soft tissue shadows of calves) occur secondarily to the disease.

Q29. Is the heart affected in muscular dystrophy?

A. The heart is a muscle, and heart disease can be a complication of all forms of muscular dystrophy. It is common in Duchenne muscular dystrophy, and may be seen in limb-girdle dystrophy. It also frequently occurs in myotonic dystrophy. Although uncommon in facioscapulohumeral dystrophy, it has also been found in this condition.

Q30.Is mental retardation often found in the patient with Duchenne muscular dystrophy?

A. The incidence of mental retardation is no greater in the M.D. population than in the total population.

Q31. What causes deformity in muscular dystrophy?

A. It is the result of muscle weakness, which causes secondary muscle to contracture and imbalance.

Q32. Does a child with Duchenne dystrophy require more rest than an average child

A. Usually not.

Q33. Is muscular dystrophy a progressive disease, or are there times when it stops for a while and starts again?

A. The weakening process in muscular dystrophy is a continuous one, although there may be times when the processes of normal growth and development seem to overtake the disease and the patient appears to have gained strength because of this.

Q34.Does muscular dystrophy affect hearing, eyesight, or speech?

A. Cataracts sometimes develop in myotonic dystrophy. Otherwise, except in those rare conditions where the muscles that move the eye are involved, muscular dystrophy does not damage eyesight. Hearing is usually unaffected. Speech may be impaired i facioscapulohumeral dystrophy where there is weakness of those facial muscles controlling speech.

Q35. Are the muscles of the hands affected in muscular dystrophy?

A. Usually not severely enough to interfere with any of the normal functions of the hand until very late in the disease.

Q36. If there is no known cure for muscular dystrophy, why is it important that diagnosis be made early

A. For many reasons. First, so that the patient will have established access to a competent facility for care and treatment when a cure becomes available. Second, so that adequate medical attention can be directed toward the patient, serving his physical, psychological, and social needs during the course of his disease. Third, so that parents and female relatives can receive genetic counselling concerning risk in future pregnancies.

Q37.Of what use are blood muscle enzyme determinations in the diagnosis of muscular dystrophy

A. An elevated muscle enzyme (e.g. CPK, adolase, L.D.H.) indicates that muscle cells have been damaged. Typical elevations are found in various muscle diseases, including the muscular dystrophies.

Q38. What is electromyogram (EMG)?

A. An electromyogram is an examination performed by inserting very fine needle electrodes into selected muscles and recording and interpreting the electrical patterns that they produce at rest and during muscular contraction. Typical patterns may be diagnostic of various diseases of muscle or nerve.

Q39. What is muscle biopsy?

A. A muscle biopsy is a minor procedure in which a small piece of muscle is removed under general or local anestesia, sliced very thin, treated with a variety of stains, and examined under a microscope for changes that are typical of various diseases of muscle or nerve.

Q40. Do patients with muscular dystrophy sometimes feel stronger on some days and weaker on others?

A. Yes, like other people, muscular dystrophy patients have good and bad days.

Q41.Is muscular dystrophy primarily a disease of muscle, or are the nerves also affected?

A. Muscular Dystrophy is though to be primary myopathy; that is, a condition caused by diseased muscle. However, some research suggests that nerves may also be affected.

Q42. Are the bowel or urinary bladder involved in muscular dystrophy?

A. Constipation sometimes occurs in wheelchair-confined patients. Otherwise the bowels are rarely affected in diseases of muscle. Similarly, function of the urinary bladder is normal.

Q43. Is there any correlation between the age of onset of muscular dystrophy and its progression?

A. As a general rule it can be said that the earlier clinical symptoms appear, the more rapidly the disease progresses.

Q44. Have two distinct types of muscular dystrophy in one family ever been reported?

A. No.

Q45. Do acupuncture, electrical stimulation, psychic-healing, detoxifying the body through colonic irrigation and cleansing through fasting, massage hydrotherapy, or hot and cold alternating baths or showers help in the treatment of muscular dystrophy?

A. Generally such measures do not help the treatment of muscular dystrophy, however, many individuals have improved their level of comfort, mobility and dexterity through massage, hydrotherapy and physiotherapy.

Q46. Why is it important to correct foot instability in the child with Duchenne muscular dystrophy?

A. Correction is mandatory, because even minor degrees of contracture in weight-bearing joints can interfere with balance and impede walking.

Q47. Is there anything to help muscular dystrophy patients breathe better?

A. Breathing can be helped through improving posture, through diaphragmatic breathing exercises (which can be taught by a physical therapist), and through the use of certain assistive equipment prescribed by the doctor.

Q48. Why it is dangerous to keep a child with muscular dystrophy at bed rest for more than a day or so?

A. Children with Duchenne muscular dystrophy suffer rapid acceleration of weakness when they are kept in bed more than a day or so. It is usually unnecessary to keep these children at absolute bed rest during the treatment of the common cold or the ordinary childhood diseases.

Q49. What is potural drainage

A. A technique for aiding the patient to get rid of respiratory secretions by assuming a variety of positions in which such secretions are easily drained from the chest. Postural drainage can be taught by a physical therapist.

Q50. Why is it important to measure the strength and functional ability of a child with muscular dystrophy at regular intervals?

A. So that subtle changes that indicates progressive weakness can be detected early and appropriate treatment started.

Q51. What are diaphragmatic breathing exercises?

What is intermittent positive pressure breathing(IPPB)?

A. Diaphragmatic breathing exercises train the patient in the use of the diaphragm for breathing. They should be taught to all patients suffering loss of breathing capacity because of chest muscle weakness. IPPB treatment involves the use of portable therapy unit that aids the patient in ventilating the lungs and removing bronchial secretions. Its operation is simple and can be easily mastered in a few minutes time.

Q52. Are exercises helpful in the treatment of muscle disease?

A. Stretching exercises are helpful in preventing muscle contracture and subsequent joint deformity. Strengthening exercises are usually of limited help, and the patient with muscle disease should always be cautioned against overexertion.

Q53. What can be done to help the child with Duchenne dystrophy who finds increased difficulty with walking?

A. Surgical release of contracted muscles followed by light plastic bracing can enable some children to continue walking independently for a relatively longer period of time.

Q54. In muscular dystrophy, it is ever possible to transfer strong muscles to take over the function of those that are weak?

A. Sometimes a strong muscle in the foot can be transferred, or rerouted, surgically to take over the function of other foot muscles that are weak.

Q55. Once a child is confined to a wheelchair, will surgery and bracing enable him to stand and walk again?

A. Surgery is seldom successful in enabling a wheelchair-bound child to stand and walk again.

Q56. Why do some children with Duchenne muscular dystrophy walk with a swayback, wide-based gait?

A. Because of a selective weakening of certain muscle groups, with secondary overpull of others. this can be helped by daily stretching of those muscles that tend to contract.

Q57. What can physical therapy offer the child with muscular dystrophy?

A. The prevention and / or correction of muscle contractures, the effective use if residual strength and increase in the efficiency of functional activities such as standing, ambulation, and transfer can all be improved by physical therapy.

Q58. What is the difference between active and passive exercise?

A. Active exercise is functional exercise performed by the patient. In passive exercise, the patient's body is manipulated in stretching exercises by the therapist or parent.

Q59. Why is it important to keep the heel cords well stretched in a child with muscular dystrophy?

A. In order to maintain alignment support in the body. In a child with Duchenne muscular dystrophy, severe contractures of the heel cord can make the differences between walking and not walking.

Q60. Are any special diets or vitamins helpful in the treatment of muscular dystrophy?

A. There is no special diet or vitamin that has been found useful in the treatment of muscular dystrophy. However, patients should be encouraged to eat well a balanced diet and to avoid becoming overweight.

Q61. Why do so many wheelchair-confined children with muscular dystrophy become obese, and how can this be prevented?

A. Obesity occurs because the patient's food intake is far in excess of his reduced energy demand. This is usually due to a combination of psychic overeating (often a technique to handle anxiety) and parental pampering. The child with minimal energy demands should have his caloric intake cut down.

Q62. What are some of the aids available to help in the care of the dystrophic child?

A. A variety of self-help aids are available, including raised chairs and toilet seats, grab bars, bath tub benches, high stools, clothing adaptions (utilising special zippers on trousers, easily manipulated velcro fastenings, etc.) footboards to diminish heel cord contracture, overbed cradles to keep covers off the legs, and electric, hydraulic, or mechanical lifts to transfer to and from bed and bath.

Q63. Can patients with muscular dystrophy receive routine inoculations and be treated with the usual medications and / or surgery for conditions unrelated to muscular dystrophy?

A. Children with muscular dystrophy should receive their routine shots, including flu shots when indicated. There are usually no contraindications to any usual treatment (including surgery) for other diseases that might be found in the patient with muscular dystrophy.

Q64. Why is it said that "in muscular dystrophy the family is the patient"?

A. All members of the family are affected directly or indirectly by the disease. Also, the attitude of the family toward the child with muscular dystrophy is one of the most crucial aspects of his care. Maintaining reasonable expectations, yet at the same time avoiding over-protection and dealing with the emotional problems of all concerned in an honest and forthright manner, are of paramount importance in the on-going psychosocial care of the family and child.

Q65. If a woman with muscular dystrophy becomes pregnant, will she have trouble with deliver?

A.Probably not. The uterine musculature is not affected by the disease, and such women usually have no difficulty with delivery.

Q66. Do parents of a child with muscular dystrophy often have emotional problems themselves?

A. Yes. Because of undue demands on their time and strength as well as normal feelings of anger and guilt that may arise, parents of children with muscular dystrophy often find themselves with psychological and social problems. These can usually be worked out through individual counselling or parent groups.

Q67. Who can help the family with psychological problems (such as feelings of anger and guilt) caused by the disease?

A. Referral to a qualified medical social worker, psychologist, or psychiatrist can be obtained from you doctor, or through your Muscular Dystrophy Association, or a member of the Association's local staff.

Q68. What should be expected of the child with Duchenne muscular dystrophy?

A. That he live as productively and as normally as possible while realistically recognising the specific limitations imposed by the disease. Honest expectations must be set for these children, as for anyone with a crippling condition. At the same time, one should avoid over-protection, allowing the child to accomplish by his own efforts those tasks that win for him the approval of others. Over-protection, rather than helping, leads inevitable to isolation and dependence.

Q69. How does one plan ahead (high school, college, job, etc.) for the child with muscular dystrophy?

A. Most children with muscular dystrophy are able to attend high school, even though a special school may be necessary. Depending upon the type of muscular dystrophy present, some are able to attend college (certain campuses are designed to accommodate students in wheelchairs). Many pursue careers after graduation.

Q70. How should parents respond to a child's inquiries about the crippling and even fatal aspect of his disease?

A. Parents should give answers in words the child can understand that are realistic, hopeful, honest, yet as reassuring as possible. It is important to recognise exactly what the child is asking and respond to this specific request for information and not to one's own anxieties.

Q71. How and when does a parent tell other children in the family about a brother or sister who has muscular dystrophy?

A. If lines of communication in the family are kept open many potential problems can be avoided. Brothers and sisters of the dystrophic child should be told of his or her condition and its implications as soon as they are able to understand. Parents must realise that their normal children also have physical and emotional needs that must be met and avoid focusing all their attention on the dystrophic child.

Q72. Can a patient with muscular dystrophy participate in sports?

A. As long as strength permits. Because the buoyancy of water supports the body, most patients are able to enjoy on-strenuous water activities after weakness prevents participation in more vigorous athletics.

Q73. What type of recreational activities are available to a child with muscular dystrophy?

A. Many forms of activities are available including National Electric Wheelchair Sports (N.E.W.S.) which is competitive hockey and is enjoyed by many boys with muscular dystrophy. There are many varied computer activities which are now available due to improved technology.

Q74. Should children with muscular dystrophy attend ordinary school?

A. Yes, for as long as possible. It is very important to "mainstream" such children in every way possible.

Q75. What Social Security and other benefits can a muscular dystrophy patient obtain from the government?

A. Patients with various disabilities can apply for aid from various government agencies. They are entitled to various benefits through the Department of Social Security. A Medical Social Worker, M.D.A. or your doctor can assist in making such applications.

Q76. What are the best shoes for a child with muscular dystrophy?

A. Canvas shoes or similar footwear are best both in and out of braces because they are light and the rubber soles provide traction. Additionally, their appearance is more acceptable than that of high-laced surgical boots.

Q77. Is there any treatment for the shoulder weakness and instability found in Duchenne muscular dystrophy?

A. Treatment of shoulder disability is not needed while the child is ambulatory, and assistive appliances are available when wheelchair confinement becomes necessary.

Q78. Do children with muscular dystrophy develop pressure sores from sitting for long periods of time in a wheelchair?

A. Seldom, if ever.

Q79. Is spinal curvature (scoliosis) a frequent complication of muscular dystrophy?

A. Children with Duchenne muscular dystrophy usually do not develop spinal curvature until they are wheelchair-bound. This is particularly true to those whose lower extremity contractures are relieved by surgery and bracing. Scoliosis can occur in ambulatory Becker's dystrophy, and in the childhood forms of facioscapulohumeral dystrophy and of myotonic dystrophy.

Q80. Do any endocrine abnormalities cause muscle disease?

A. Yes, the most common of these are hyperthyriodism, hyperparathyriodism, and myopathies secondary to disorders of the adrenal corticosteroids.

Q81. Can patients with muscle disease engage in sexual activity, and is such activity harmful to them?

A. Many patients with muscle disease engage in sexual activity, and is in no way harmful to them.

Q82. What is myotonic dystrophy? Can it be treated?

A. Myotonic dystrophy is a disease that usually affects adults but may have its onset in childhood. It is characterised by progressive weakness (dystrophy) and inability to relax muscles after contraction (myotonia). Additionally, this disease may include cataracts, diabetes, gonadal atrophy, personality changes, and a variety of other systemic conditions. No treatment is available for the weakness, but several drugs are effective in relieving the myotonic aspect of this disease. Myotonic dystrophy should be distinguished from myotonia congenita (Thomsen's disease), a familial condition characterised by myotonia and larges muscles; and from paramyotonia congenita, where myotonia and weakness are precipitated by exposure to cold.

Q83. What are polymyositis and dermatomyositis?

A. Polymyositis is an infammatory disorder of muscle. It occurs in acute and chronic forms. It may accompany other disorders of blood vessels and supporting tissues. It can be complicated by tumor. When accompanied by a rash it is called dermatomyositis. It is not hereditary. Its symptoms are similar to those of muscular dystrophy. the condition can often be treated successfully with corticosteroids or agents that suppress the body's immune response. Some cases response to plasmapheresis (plasma exchange) therapy.

Q84. What is amytrophic lateral sclerosis (ALS)? Does is mimic muscular dystrophy?

A. No, it doesn't. ALS is a rapidly progressive neuromuscular disorder of adults, resulting in both weakness and spasticity that may ultimately cause difficulty in swallowing, speaking and breathing. Many clinical variations are present, depending upon which parts of the brain stem, spinal cord, or nerves are involved. ALS seems to be more common in active males than in females. (More commonly referred to as "Motor Neurone Disease" MND).

Q85. Is Werdnig-Hoffmann disease a form of muscular dystrophy?

A. No, Werdnig-Hoffmann disease is one of the spinal muscular atrophies. These are diseases of the spinal cord that secondarily cause muscle wasting. The onset of Werdnig-Hoffmann disease typically occurs in early infancy; the condition may even be apparent at birth. In general, the prognosis in the spinal muscular atrophies is less favourable the earlier the onset.

Q86. What is Kugelberg-Welander disease, and how is it related to muscular dystrophy?

A. Kugelberg-Welander disease is another form of spinal muscular atrophy with later onest that Werdnig-Hoffmann disease. It usually occurs in adolescents and young adults, of either sex, and resembles muscular dystrophy in it symptoms and distribution of weakness.

Q87. What is peroneal muscular atrophy (Charcot-Marie Tooth disease)? Can it be confused with muscular dystrophy?

A. Peroneal muscular atrophy is a disease of the nervous system. It is charcterised by progressive muscular wasting particularly of the legs, foot deformity, and weakness of selective muscles in the hands. It onset is usually in adulthood, although children can be affected. It is seldom confused with muscular dystrophy.

Q88. Is benign congenital hypotonia a type of muscular disease?

A. Yes, it is a condition, distinguished by weakness at birth without accompanying findings of classical muscular dystrophy. Benign congenital hypotonia usually tends to improve with age.

Q89. What are the congenital myopathies? The metabolic myopathies?

A. The congenital myopathies are a group of diseases of muscle characterised by weakness that may be symptomatic at birth, although some do not appear until later in childhood. A positive family history is often found. Diagnosis is made by special techniques, which may include electron mitochondrial disease, and myotubular myopathy. The metabolic myopathies are caused by a specific enzyme deficiency, storage product abnormality, or other disorder of muscle metabolism. Examples of these diseases are phosphorylase deficiency; acid maltase deficiency, debrancher enzyme deficiency, carnitine palmitytransferase deficiency, and periodic paralysis.

Q90. What is distal muscular dystrophy? Opthalmoplegic muscular dystrophy?

A. Distal muscular dystrophy is a rare disorder that initially and primarily involves the small muscles of the hands and feet. Ophthalmoplegic muscular dystrophy is a rare condition that usually appears in adulthood and is slowly progressive. Muscles of the eyes and pharynx are affected.

Q91. What is myasthenia gravis ?

A. Myasthenia gravis is an autoimmune defect of neuromuscular transmission. Although characterised by muscular weakness, it is not primary disease of muscle. Symptoms include fatigue and ptosis (drooping of the eyelids). Drug therapy is used in treating this condition. Plasma exchange (plasmapheresis) has also been affected in the treatment of selected cases.

Q92. What is friedreich's ataxia? Is is a primary disease of muscle?

A. Friedreich's ataxia is not a primary disease of muscle like muscular dystrophy. Rather is it slowly progressive, hereditary disease of the brain and spinal cord that may occur in children or young adults. It is spinal curvature, foot deformity, and, occasionally, degeneration of the optic nerve.

Reproduced with permission MDAUSA

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