theThanks a lot dear Adnan for posting a good case for discussion. The above mentioned case seems to be a case of MUSCULAR DYSTROPHY. By definition MD is group of diseases that cause progressive weakness and loss of muscle mass. In MD abnormal genes mutations interfere with the proteins required to form a healthy muscle. Very unfortunately there is no cure for MD. But medicines and physical therapy will help manage the symptoms and slow down the course of the disease. Complications of MD. 1) Inability to walk 2) Shortening of muscles or tendons around the joints in the form of Contractures. This can further limit the mobility. 3) Breathing problems These patients may need a ventilator support initially in the night and later on during day time too. 4) Scoliosis 5) Heart problems 6) Swallowing problems. Investigations in MD. 1) No trauma, no statin and a high CK Creatinine Phosphokinase indicates muscle disease MD. 2) EMG Changes in the electrical activity confirms MD 3) Genetic testing 4) Muscle Biopsy 5) ECG 6) 2D Echo heart. 7) PFT NCS and MRI have no role in MD. Treatment There is no cure for MD. Treatment includes 1) Medical therapy 2) Physical therapy 3) Surgical and other procedures. Medical Therapy This includes 1) of Steroids 2) Heart drugs like ACEI Beta blockers Physical therapy 1) Range of motion and stretching exercises 2) Low impact aerobic exercise like Walking Swimming 3) Braces 4) Mobility Aids 5) Breathing exercises. Surgery Surgery for Scoliosis may further worsen breathing. Prognosis is very poor. Better counsel the patient and family members about the pros and cons to avoid further complications.
Muscular dystrophy is always bilateral except in very few case report of osteo arthritis of ankle and knee joint. There are various Muscular dystrophy identified like Duchene's which is the most common variant, hereditary inclusion body myositis (myopathy) type 1 (HIBM1), Gowers-Laing distal myopathy, Finnish (tibial) distal myopathy etc. The above case is most like of Focal muscular atrophy (FMA). Muscle wasting is probably the presenting symptom and the onset is insidious. The organ ultimately affected is the muscle, although the pathology may be anywhere along the lower motor neuron (LMN) or, at times, secondary to non neurological disorders. Etiologic factors include the following: Infection, Trauma, Inflammation, Spinal cord disorders, Vasculitis, Nerve Entrapment, physical agents, such as electrical or radiation injury, Genetic and enzyme defects. etc. EMG & MRI- spine will be useful to know the level of nerve injury.
About MND 1) Per se MND motor neuron disease is Bilateral. 2) MND is a very rare disease like the incidence is 2 cases out of 1,00,000 population. 3) Progressive muscular atrophy is a v uncommon form of MND. 4) The muscles affected first are the small muscles of hand and foot. 5) Muscle spasticity is absent in MND. 6) Primary Lateral Sclerosis is a rare variant of MND which may cause weakness in the leg muscles.
Any sensory symptoms /finding? If no with unilateral atrophy consider motor neuron disease. Rule out dm, Hansen.
Contd. 7) There is no diagnostic test for MND. 8) There is no specific treatment for MND 9) The prognosis is very poor for MND.
very interesting case. Good discussion going on too. Muscular Dystrophy to be unilateral is rare as is MND . Muscle biopsy and EMG will help. Look for dive bomber sign on EMG. Amyotrophy is a possible cause
There is significant wasting of the right leg,straight forward case of wasted leg syndrome where in such cases will have assymetrical slow,non progressive lmn type of weakness which involves the posterior crural -calf muscles followed by anterior crural and quadriceps.
Dear Adnan, Can you please share your reports ???
NEUROLOGICAL DISORDER RULE OUT MOTOR NEURON DESEASE CONSULT NEUROLIGIST
Muscular dystrophy, no treatment.
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12 yr old boy with progressive weakness in all four limb and dysarthia.Dr. Ramesh Kumbhkar2 Likes17 Answers
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An 16 years old male is having weakness of left upper limb with wasting over a period of last 6 months. Also gives history weaked grip of left hand . Apparently everything looks normal as no other symptoms What next should be done for further evaluation of this caseDr. Parveen Yograj17 Likes23 Answers
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Mumps Mumps is an infection caused by a type of virus called a paramyxovirus. It is very contagious and spread in saliva, the same way as a cold or flu. This means it can be caught from an infected person coughing, sneezing, etc. It can also be caught from touching infected objects – for example, door handles. ￼ ￼ Mumps virions are pleomorphic particles ranging from 100 to 600 nm in size, consisting of a helical ribonucleoprotein (RNP) core surrounded by a host cell–derived lipid envelope. The RNP consists of a single-stranded RNA (ssRNA) molecule coated by the viral nucleoprotein. The RNP appears to be a hollow tube with a unit length of approximately 1 mm, a diameter of 17 to 20 nm, and a central core of 5 to 6 nm. The viral host cell–derived envelope contains the viral glycoproteins that project 12 to 15 nm from the virion surface. ￼ Spreading and incubation period of Paramyxovirus The virus is acquired by respiratory droplets. It replicates in the nasopharynx and regional lymph nodes.After 12 to 25 days a viremia occurs, which lasts from 3 to 5 days. During the viremia, the virus spreads to multiple tissues, including the meninges, and glands such as the salivary, pancreas, testes, and ovaries.Inflammation in infected tissues leads to characteristic symptoms of parotitis and aseptic meningitis.The incubation period of mumps is 14 to 18 days (range, 14 to 25 days). History In the 5th century bc, Hippocrates described a mild epidemic illness associated with nonsuppurative swelling near the ears and, variably, with painful swelling of one or both testes. These descriptions of parotitis and orchitis, respectively, are the hallmarks of mumps virus (MuV) infection. The name mumps may derive from an old English verb that means to grimace, grin, or mumble. Hamilton, a physician of the late 18th century, is credited as being the first to associate central nervous system (CNS) involvement with mumps in his description of the neuropathology of a fatal case. Later studies would reveal MuV as a highly neurotropic agent and a leading cause of virus-induced aseptic meningitis and encephalitis. A number of laboratory investigations suggested that a filterable, transmissible agent was responsible for mumps. However, a viral etiology was not proven until 1935 when Johnson and Goodpasture, using bacteria-free parotid secretions, successfully transmitted the disease between monkeys and children and then back to naïve monkeys, fulfilling Koch’s postulates. The demonstration by Habel145 and Enders108 in 1945 that MuV could be isolated and propagated in embryonated eggs enabled the demonstration of the hemagglutinating, hemolytic, and neuraminidase properties of the virus, leading to the development of an inactivated vaccine in 1946 and to the first live virus vaccine in 1958. The introduction of tissue culture as a practical alternative for the propagation and study of the virus in 1948 was pivotal for advancing studies of the epidemiology and pathogenesis of the disease as well as the molecular biology of the virus, permitting the development of cell-based vaccines. Epidemiology at worldwide The mumps virus is present throughout the world and hence, risk of exposure to mumps outside the United States may be high. In many countries worldwide, mumps remains endemic. The mumps vaccine is in use in only 57% of countries belonging to the World Health Organization (WHO), predominantly those countries with more developed economies. Worldwide variations in the number of persons who receive the mumps vaccination make it difficult to estimate the number of cases. The incidence varies markedly from region to region. Causes of mumps Mumps is due to an infection by the mumps virus. It can be transmitted by respiratory secretions (e.g. saliva) from a person already affected with the condition. When contracting mumps, the virus travels from the respiratory tract to the salivary glands and reproduces, causing the glands to swell. Examples of how mumps can be spread include: Sneezing or coughing.Using the same cutlery and plates as an infected person.Sharing food and drink with someone who is infected.An infected person touching their nose or mouth and then passing it onto a surface that someone else may touch. Individuals infected with the mumps virus are contagious for approximately 15 days (6 days before the symptoms start to show, and up to 9 days after they start). What are risk factors for contracting mumps? Failure to vaccinate completely (two separate doses) with exposure to those with mumpsAge: The highest risk of contracting mumps is to a child between 2-12 years of age.Season: Outbreaks of mumps were most likely during the winter/spring seasons.Travel to high-risk regions of the world: Africa, general Indian subcontinent region, and Southeast Asia. These areas have a very low rate of immunization.Weakening immune system: either due to diseases (for example, HIV/AIDS, cancer) or medication (oral steroid use for more than two weeks, chemotherapy).Born before 1956: Generally, these individuals are believed to have experienced mumps infection in childhood. However, if they did not, they are at risk for adult mumps disease. Signs & Symptoms of Mumps The most common symptoms include: FeverHeadacheMuscle achesTirednessLoss of appetiteSwollen and tender salivary glands under the ears on one or both sides (parotitis) Symptoms typically appear 16-18 days after infection, but this period can range from 12-25 days after infection. Some people who get mumps have very mild or no symptoms, and often they do not know they have the disease. Most people with mumps recover completely in a few weeks. Notify your healthcare provider if you have any of the following: Swelling that lasts longer than seven daysHeadaches not relieved with medicationOngoing feverNausea and vomitingSwelling accompanied by redness or warmthDecreased hearingNeck stiffnessPain or swelling in testicles (male)Abdominal Pain Complications of mumps Complications are more frequent in adults than children, the most common are: Orchitis – testicles swell and become painful, this happens to 1 in 5 adult males with mumps. 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MND.. Motor Neuron Diseases(MNDs) are a Progressive Neurodegeneration that destroy Motor Neurons.. There are 2 types of Motor Neurons 1) Upper Motor Neurons 2) Lower Motor Neurons and other lowes motor neurons just attached to immediate bodies. The cells that control essential voluntary muscle activity namely speaking,walking,breathing,swalling. Generally messages from nerve cells in the Brain( called Upper Motor Neurons) are transmitted to nerve cells in the Brain Stem and Spinal Cord ( lower motor neurons) and from them to particular muscles. Upper Motor Neurons direct the Lower Motor Neurons and Lower Motor Neurons control movement in the arms,legs etc. When there are disruptions in the Spinals between the Lowest Motor Neurons and the muscles gradually weaken and may begin wasting away and developed uncontrolleble twitching called Fascination. And when disruptions of signals between Upper Motor Neurons and Lower Motor Neurons then rigidity takes place that is called Spasticity.. knee jerk and ankle jerk overactive and voluntary movement can be lost. treatment.... 1) Medorrhenum 200 one dose at seven days interval.. 2) Gelsemium 200 one dose in every morning.. 3) Physiotherapy.. Thank you.. Dr Anutosh Chakraborty.Dr. Anutosh Chakraborty10 Likes13 Answers
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### 11 years old girl was brought to OPD with the complaint of loss of locomotion (movement is present) of both lower limbs since 2 years. She can't walk but can move her legs. Before 2 years she was a school going child. She has to be lifted for toilet. Her upper limbs are, though normal, wasted as well as lower limbs. Her parents are too poor to afford an investigation. She has not attained her menarche yet. Detailed examination was not possible at the OPD set-up, so kindly excuse me for that. Anyway, please give your opinions regarding the management of this case.Dr. Shofique Anowar0 Like5 Answers