Myotonic Muscular Dystrophy[1]
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[b] a significant number of cases occurring below 50 years of age, [c] Absence of gastric cancer as part of cancer family syndrome, [d] additional risk posed by fried food. Since patient number was small, these results need confirmation by larger field studies. G Ray+, S Dey*, S Pal+ +Senior Medical Officers; *Post Graduate [DNB] Trainee, Gastroenterology Unit, Department of Medicine, B.R. Singh (Central) Hospital, Eastern Railway, Sealdah, Kolkata. Received : 28.5.2005; Revised : 12.12.2006; Accepted : 30.1.2007
REFERENCES 1.
Cancer. In: K Park, Ed. ParkÊs Textbook of Preventive and Social Medicine (18th edition). Jabalpur: M/S Banarsidas Bhanot Publisher. 30210.
2.
Development of An Atlas of Cancer in India. First All India Report 20012002. Nandakumar A, Gupta PC, Eds. National Cancer Registry Programme (ICMR), Bangalore, 2004.
3.
Malhotra SL. Geographic distribution of gastrointestinal cancer in India with special reference to causation. Gut 1967;8:36172.
Myotonic Muscular Dystrophy Sir, The disease is seen worldwide with a particularly high frequency in French Canadians in Quebec where all cases can be traced to a single ancestor.1-3 The molecular basis of disease lies in expansion of a trinucleotide (cytosine thymine guanine CTG) repeat sequence in the 3Êuntranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q. This expanded gene is unstable and its size increases with age. The size of repeat on gene is directly proportional to clinical severity of disease and has inverse relation with age of onset of the disease.1-3 25-years-old male presented with decreased power of gripping, which progressed to difficulty in holding objects in hands over 5 years. There was difficulty in holding neck while getting up from lying down position and dysphagia, and nasal intonation of voice along with nasal regurgitation of fluids for last 3 years. There was no family history of the disease. On examination atrophy of muscles of face (hatchet shaped face), temporalis, masseter along with sternocleidomastoid bilaterally was noted (Fig. 1). Percussion myotonia could be demonstrated both on thenar muscles (Fig. 2) and tongue. Rest of neurological examination and systemic examination was normal. EMG studies showed myotonia along with decreased amplitude of action potentials and polyphasic potentials. Muscle biopsy revealed muscle fibers of variable size with atrophy of fibers. There was presence of central nuclei and ring fibers. `Classical form' of the disease is seen in adolescent or early adult life with variable presenting features. Muscular weakness, myotonia, mental retardation, cataract, neonatal problems are common symptoms © JAPI VOL. 55 MARCH 2007
Fig. 1 : Clinical photograph of patient showing atrophy of facial muscles, muscles of mastication (ÂhatchetÊ facies) and atrophy of neck muscle.
Fig. 2 : „Percussion myotonia‰ in thenar muscle of hand.
and about 18% remain asymptomatic.1, 3 The clinical severity of the disease ranges from death in utero to mild symptoms without physical signs in old age.2 Superficial facial muscles, levator palpebral superioris, temporalis, sternocleidomastoid, distal muscles of forearm and dorsiflexors of foot are most prominently affected. The atrophy of facial muscles gives „typical hatchet shaped appearance‰ to face. Quadriceps, diaphragm, intercostals, palatal muscles, pharyngeal muscles, and extraocular muscles are also commonly involved. Muscles of pelvic girdle, hamstrings, soleus, and gastrocnemius are spared.1 Smooth muscle involvement of gastrointestinal tract may lead to dysphagia and irritable bowel syndrome like symptoms.
www.japi.org
249
Conduction defect and cardiomyopathy denotes cardiac involvement. Cataract, frontal baldness in male, gonadal atrophy, hypersomnia, mild endocrinal anomalies, bone changes and abnormalities of immunoglobulins can be other associated disorders.1-3
role in such patients. Genetic counseling by means of chorionic villous sampling can be offered for screening to the members of family affected.1-3
`Congenital form ' is evident at birth with history of polyhydramnios and poor fetal movement in pregnancy. There can be respiratory and feeding difficulty in neonatal period with death of few, in those surviving until late teens or early adulthood, hypotonia resolves and motor function improves but during adolescence the features of classic adult form appear. The `late onset form' is associated with a small CTG-repeat expansion and is typically asymptomatic or oligosymptomatic.1-3 Death is usually due to respiratory infections or cardiac cause. There is currently no specific therapy. The surgical procedures are avoided due to associated anesthetic sensitivity, postoperatively respiratory muscle inadequacy with high incidence of arrhythmias. These patients require regular, general, and neuromuscular assessment for detection and correction of systemic disorders and for better quality of life. Physiotherapy, occupational advice, and speech therapy all have a
*Registrar, **Post Graduate, ***Associate Professor, +Professor and Head, Department of Medicine, I. G. Medical College, Shimla (H. P.). Received : 13.10.2003; Revised : 17.8.2004; Re-revised : 1.2.2007; Accepted : 8.2.2007
SK Mahajan*, BR Sood*, V Chauhan**, S Thakur***, LS Pal+
REFERENCES 1.
2.
3.
Brook JD. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat in the 3Ê end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808. Harper PS. Myotonic dystrophy and other autosomal muscular dystrophies. In Scriver CS, Blaudet AL, Sly W S et al (Edi). The Metabolic and Molecular Basis of Inherited disease 7th Edi. Mcgraw Hill, Inc Health Profession Division New York 1995;III:4227-41. Hilton-Jones D. Myotonia. Oxford Textbook of Medicine. Warrel DA, Cox TM, Firth JD, et al (Edi) 4th Edi Oxford University Press. Oxford 2003;I:480-1.
STATEMENT OF OWNERSHIP Statement about ownership and other particulars about newspaper (Journal of the Association of Physicians of India) to be published in the first issue every year after last day of February.
Form IV (see Rule B) 1.
Place of publication
Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
2.
Periodicity of its publication
Monthly
3.
Printer's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
4.
Publisher's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
5.
Editor's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
6.
Name and address of individuals who own the newspaper and partners or shareholders holding more than one per cent of the total capital
Association of Physicians of India. Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
I, Dr. Shashank R Joshi, hereby declare that the particulars given above are true to the best of my knowledge and belief. Sd/Dr. Shashank R Joshi Signature of Publisher
250
www.japi.org
© JAPI VOL. 55 MARCH 2007
REFERENCES 1.
Cancer. In: K Park, Ed. ParkÊs Textbook of Preventive and Social Medicine (18th edition). Jabalpur: M/S Banarsidas Bhanot Publisher. 30210.
2.
Development of An Atlas of Cancer in India. First All India Report 20012002. Nandakumar A, Gupta PC, Eds. National Cancer Registry Programme (ICMR), Bangalore, 2004.
3.
Malhotra SL. Geographic distribution of gastrointestinal cancer in India with special reference to causation. Gut 1967;8:36172.
Myotonic Muscular Dystrophy Sir, The disease is seen worldwide with a particularly high frequency in French Canadians in Quebec where all cases can be traced to a single ancestor.1-3 The molecular basis of disease lies in expansion of a trinucleotide (cytosine thymine guanine CTG) repeat sequence in the 3Êuntranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q. This expanded gene is unstable and its size increases with age. The size of repeat on gene is directly proportional to clinical severity of disease and has inverse relation with age of onset of the disease.1-3 25-years-old male presented with decreased power of gripping, which progressed to difficulty in holding objects in hands over 5 years. There was difficulty in holding neck while getting up from lying down position and dysphagia, and nasal intonation of voice along with nasal regurgitation of fluids for last 3 years. There was no family history of the disease. On examination atrophy of muscles of face (hatchet shaped face), temporalis, masseter along with sternocleidomastoid bilaterally was noted (Fig. 1). Percussion myotonia could be demonstrated both on thenar muscles (Fig. 2) and tongue. Rest of neurological examination and systemic examination was normal. EMG studies showed myotonia along with decreased amplitude of action potentials and polyphasic potentials. Muscle biopsy revealed muscle fibers of variable size with atrophy of fibers. There was presence of central nuclei and ring fibers. `Classical form' of the disease is seen in adolescent or early adult life with variable presenting features. Muscular weakness, myotonia, mental retardation, cataract, neonatal problems are common symptoms © JAPI VOL. 55 MARCH 2007
Fig. 1 : Clinical photograph of patient showing atrophy of facial muscles, muscles of mastication (ÂhatchetÊ facies) and atrophy of neck muscle.
Fig. 2 : „Percussion myotonia‰ in thenar muscle of hand.
and about 18% remain asymptomatic.1, 3 The clinical severity of the disease ranges from death in utero to mild symptoms without physical signs in old age.2 Superficial facial muscles, levator palpebral superioris, temporalis, sternocleidomastoid, distal muscles of forearm and dorsiflexors of foot are most prominently affected. The atrophy of facial muscles gives „typical hatchet shaped appearance‰ to face. Quadriceps, diaphragm, intercostals, palatal muscles, pharyngeal muscles, and extraocular muscles are also commonly involved. Muscles of pelvic girdle, hamstrings, soleus, and gastrocnemius are spared.1 Smooth muscle involvement of gastrointestinal tract may lead to dysphagia and irritable bowel syndrome like symptoms.
www.japi.org
249
Conduction defect and cardiomyopathy denotes cardiac involvement. Cataract, frontal baldness in male, gonadal atrophy, hypersomnia, mild endocrinal anomalies, bone changes and abnormalities of immunoglobulins can be other associated disorders.1-3
role in such patients. Genetic counseling by means of chorionic villous sampling can be offered for screening to the members of family affected.1-3
`Congenital form ' is evident at birth with history of polyhydramnios and poor fetal movement in pregnancy. There can be respiratory and feeding difficulty in neonatal period with death of few, in those surviving until late teens or early adulthood, hypotonia resolves and motor function improves but during adolescence the features of classic adult form appear. The `late onset form' is associated with a small CTG-repeat expansion and is typically asymptomatic or oligosymptomatic.1-3 Death is usually due to respiratory infections or cardiac cause. There is currently no specific therapy. The surgical procedures are avoided due to associated anesthetic sensitivity, postoperatively respiratory muscle inadequacy with high incidence of arrhythmias. These patients require regular, general, and neuromuscular assessment for detection and correction of systemic disorders and for better quality of life. Physiotherapy, occupational advice, and speech therapy all have a
*Registrar, **Post Graduate, ***Associate Professor, +Professor and Head, Department of Medicine, I. G. Medical College, Shimla (H. P.). Received : 13.10.2003; Revised : 17.8.2004; Re-revised : 1.2.2007; Accepted : 8.2.2007
SK Mahajan*, BR Sood*, V Chauhan**, S Thakur***, LS Pal+
REFERENCES 1.
2.
3.
Brook JD. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat in the 3Ê end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808. Harper PS. Myotonic dystrophy and other autosomal muscular dystrophies. In Scriver CS, Blaudet AL, Sly W S et al (Edi). The Metabolic and Molecular Basis of Inherited disease 7th Edi. Mcgraw Hill, Inc Health Profession Division New York 1995;III:4227-41. Hilton-Jones D. Myotonia. Oxford Textbook of Medicine. Warrel DA, Cox TM, Firth JD, et al (Edi) 4th Edi Oxford University Press. Oxford 2003;I:480-1.
STATEMENT OF OWNERSHIP Statement about ownership and other particulars about newspaper (Journal of the Association of Physicians of India) to be published in the first issue every year after last day of February.
Form IV (see Rule B) 1.
Place of publication
Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
2.
Periodicity of its publication
Monthly
3.
Printer's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
4.
Publisher's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
5.
Editor's name Nationality Address
Dr. Shashank R Joshi Indian Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
6.
Name and address of individuals who own the newspaper and partners or shareholders holding more than one per cent of the total capital
Association of Physicians of India. Turf Estate, Unit No. 6 and 7, Opp. Shakti Mill Compound, Off Dr. E Moses Road, Mahalaxmi (W), Mumbai 400 011.
I, Dr. Shashank R Joshi, hereby declare that the particulars given above are true to the best of my knowledge and belief. Sd/Dr. Shashank R Joshi Signature of Publisher
250
www.japi.org
© JAPI VOL. 55 MARCH 2007
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