Muscular Dystrophy Study Guide PDF

Muscular Dystrophy Prepared by Hevi Physio Ahmad Alaa Amanj Azad Abdulwahab Khalid Bashar Abdulsamad Muhammad Kawa Supervised by Dr. Sarkawt S.Kakai Outline Introduction Etiology Diagnosis Treatment Types Clinical findings Case study Introduction Muscular dystrophy is a subgroup of myop...

Muscular Dystrophy Prepared by Hevi Physio Ahmad Alaa Amanj Azad Abdulwahab Khalid Bashar Abdulsamad Muhammad Kawa Supervised by Dr. Sarkawt S.Kakai Outline Introduction Etiology Diagnosis Treatment Types Clinical findings Case study Introduction Muscular dystrophy is a subgroup of myopathic diseases which includes a group of hereditary disorders that lead to progressive, generalized weakness and wasting of the muscles. At the end, the muscle fibers are replaced by fibro-fatty tissue (pseudohypertrophy). Etiology Muscular dystrophy can be caused by mutations in numerous genes, resulting in enzymatic or metabolic defects, and can be transferred in an X-linked, autosomal dominant, or autosomal recessive fashion Changes in the X-linked gene, which encodes dystrophin, is the most frequent cause of muscular dystrophy. This why this cause is frequent in males because they have only a single copy of the X chromosome Dystrophin present Dystrophin absent Types The types of muscular dystrophy are grouped by the: • Affected muscle groups • Severity of symptoms • Age of onset • Family history • Rate of progression Most muscular dystrophy types progress slowly and are considered chronic, except one type which is GuillainBarré syndrome, which is fast progressing and is considered an acute condition Type Duchenne Becker Limb-Girdle Onset 3 to 5 years old 10 to 20 years old Variable, but mostly after 10-20 years old 18-20 years old (Fast progression) 40-50 years old (Slow progression) Normal, with severe Affected muscle groups Life expectancy Inheritance X-Linked X-Linked disability Autosomal Dominant Autosomal Recessive Clinical findings Duchenne is the most common and severe of all the muscular dystrophies. The incidence is 1:3500 live male births In children with Duchenne and Becker, initial findings may include: • • • • One-third of patients will have learning • difficulties • Gower’s sign occurs due to progressive hip and knee extensor weakness. • Waddling gait (school age) Scoliosis • Muscle involvement is bilateral and symmetrical especially proximal muscles By 18 years of age cardiomyopathy and respiratory insufficiency are the norm Tendon reflexes are depressed and are lost as the disease progresses Muscle imbalance (postural malalignment) Becker muscular dystrophy is less severe than but closely related to DMD, its incidence is 1 in 30,000 Muscle weakness is typically noticed first in the upper arms, shoulders, upper legs, and pelvis. Cognitive and behavioral impairments and heart problems are not as common or severe as in DMD, but they do occur. Diagnosis Usually begins by taking a patient and family history and performing a physical examination. Laboratory Tests ● Creatine kinase (CK) Radiographic Tests ● ● Other Tests Magnetic Resonance Imaging ● Genetic testing (MRI) ● Muscle biopsy Computerized Tomography ● Electrocardiogram (ECG) (CT) ● Electromyography (EMG) Treatment There's currently no cure for muscular dystrophy (MD), but a variety of treatments can help to manage the condition. Medications Surgical Interventions Other Interventions ● Anti-arrhythmics ● Cardiac pacemaker ● Physiotherapy ● Anti-epileptics ● Contracture release ● Bracing ● NSAIDs ● Shoulder surgery ● Education ● Steroids ● Spinal correction ● Breathing assistance ● Gene therapy (Elevidys) Case study An 11-year-old male patient reported to the medical clinic with a history of generalized weakness for more than six years. Over the years, he received treatment in several hospitals where the definitive diagnosis was not reached. He received several treatments like multivitamins and antibiotics, with minimal to no clinical improvement. The parent reports a history of poor performance in school, repeated falls, inability to keep up with peers during sports due to fatigue, progressive muscle weakness, and inability to climb stairs. There was no history of muscle pain, preceding trauma, or clinical features suggestive of an infection. Family history revealed that his uncle, currently in his late teens, has experienced similar symptoms and is now bedridden. On examination, the child has slight wasting, fully conscious with a Montreal cognitive assessment score of 20, which indicates significant impairment of cognitive function. Furthermore, he was afebrile, and exhibits a waddling gait, lumbar hyperlordosis, toe walking, reduced power of proximal muscles of the lower limbs, calf hypertrophy, flat feet, and positive Gowers’ sign. Thanks Do you have any questions? Resources ninds.nih.gov ncbi.nlm.nih.gov onlinelibrary.wiley.com health.ucdavis.edu Physical management for neurological conditions (3rd ed.). (2011). Elsevier. youtube.com/@MedicosisPerfectionalis Nerve Entrapment Supervised by :Dr.Sarkawt S.Kakai Presented by : Abdulla Muhammadamin Abdulla Srush Rasul Mahmood Sakar Akram Abdulrahman Tuqa Abdulmuhaimin Awni Eman Zero salih Table of contents 01 Introduction 02 Causes & Types 03 Sign & Symptoms 04 Diagnosis 05 Treatments Introduction It is compression on a nerve due to swelling of the surrounding tissues . Usually it is compressed between a ligament and a bone . repetitive movement can cause the ligament to press or rub against the nerve . Entrapment neuropathies occur within peripheral nerves and is typically characterized by pain and/or loss of function (motor and/or sensory) of the nerves as a result of chronic compression. To adequately diagnose a nerve entrapment, it is important to know the neural pathways and areas of responsibility of the peripheral nerves. Causes & Types Types of Entrapment These types are named for the area they impact. 1. Carpal tunnel syndrome 2. Cubital Tunnel Syndrome 3. Peroneal Nerve Entrapment 4. Sciatica nerve entrapment Causes & Types What Causes Entrapment Neuropathy? 1. A traumatic injury 2. Tumors or cysts can press against a nerve. 3. Pregnancy hormones 4. Rheumatoid arthritis *A full assessment is necessary to determine whether symptoms of entrapment neuropathy are caused by a more serious condition. Sign & Symptoms The following are typical indications and symptoms of digital nerve entrapment, which affects the nerves in the fingers and toes: 1. Pain: In the fingers or toes, there is sharp or shooting pain. 2. Tingling or Numbness: The afflicted digit may experience tingling or numbness. 3. Weakness: Decreased toe or finger strength or coordination. 4. Searing Sensation: A hot, searing sensation in the impacted area. 5. Altered Sensation: Modifications in feeling, including lack of feeling or hypersensitivity. 6. Swelling:The area surrounding the pinched nerve swells. Diagnosis Evaluation and diagnosis • History: Onset of symptoms: when, where Progression Aggravating factors Relieving factors ROS: diabetes, arthritis, trauma • Physical exam: Inception: swelling, deformity atrophy Joint mobility Sensory test Muscle strength test: using (MMT grades) Provocative test Diagnosis • Imaging test: MRI US CT scan • other electro-diagnosis test: Nerve conduction study Electromyogram (EMG) • • • • • • • • Provocative test Spurling test Tinel test Median Nerve Compression test Phalen's test Elbow Flexion test Straight leg raise (SLR) slump test Thomas test Treatments  Surgical treatments • Open up the nerve tunnel. • Remove tumors or cysts. • Repair, relocate or transfer nerves.  Nonsurgical treatments • non steroidal anti inflammatory drugs . • Physical and occupational therapy • Splints, braces or orthotics Treatments  Physical therapy treatment • • • • • • • • Stretching, strengthening and/or conditioning exercises Restoring range of movement Postural improvement Soft tissue mobilizations (massage) Electro-therapy Dry needling , taping A unique home exercise program Graded Exposure to load program References ● ● ● ● ● https://www.physiopedia.com/Nerve_Entrapment https://neurosurgerycnj.com/peripher al-nerve/nerve-entrapment/ https://emedicine.medscape.com/artic le/249784-overview?form=fpf https://my.clevelandclinic.org/health/d iseases/22137-nerve-compressionsyndrome https://www.healthline.com/health/ne rve-compression-syndrome Thank You Spinal cord Disorders Prepared By :• • • Srwa tariq Bllnd dler Alwand srwd • • • Issa kawes Niga soran Ballen khasraw Supervised By :Dr.Sarkawt Kakai Table of contents 01 Introduction 02 Anatomy 03 Spinal cord disorders 04 Damage from outside 05 Damage from inside 06 General diagnosis of spinal cord 07 Post operative complications 08 Conclusions Spinal cord disorders Anything that causes spinal cord not functioning properly from pathologic , physiologic , Trauma, infections etc... Conditions. Which each have different impacts on spinal cord Anatomy The spinal cord is a tube like structure that consists of a bundle of nerves that extends from the base of the brain and down the back. The spinal cord carries messages from the brain to the rest of the body. The spinal cord is located within the vertebrae (the backbone). Anatomy The spinal cord is divided into four areas, any of which can be affected by spinal cord disorders. These areas include: • Cervical (neck) • thoracic (upper back region) • lumber (lower back region) • Sacral (pelvis) Spinal nerves connect to specific areas of the body through spaces in the vertebrae. Spinal nerves have two nerve roots: • Motor Root: Carries signals from the spinal cord to the muscles to stimulate movement. • Sensory Root: Carries sensory information that relays sensations such as touch, pain, and temperature from the body to the spinal cord. Spinal cord disorders Spinal cord disorders can originate from either outside or inside the spinal cord. Damage from the outside • • Compression (stenosis) Spinal cord injury Damage from the inside • • • • • • • Fluid-filled cavities (Syringomyelia) Subacute combined degeneration Blockage of blood supply Vitamin deficiency Autoimmune diseases Multiple sclerosis Syphilis Stenosis Your spinal cord is a bundle of nerves that runs through a tunnel formed by your vertebrae. The tunnel is called the spinal canal. Lumbar spinal stenosis is a narrowing of the spinal canal in the lower part of your back. Stenosis, which means narrowing, can cause pressure on your spinal cord or the nerves that go from your spinal cord to your muscles. Spinal stenosis can happen in any part of your spine but is most common in the lower back. This part of your spine is called your lumbar area. Five lumbar vertebrae connect your upper spine to your pelvis. Causes and symptoms Early lumbar spinal stenosis may have no symptoms. In most people, symptoms develop gradually over time. Symptoms may include: • • • • • • Osteoarthritis (most common) Rheumatoid arthritis Spondylolisthesis Aging related changes A herniated ( bulging ) disk When a segment of the spine becomes too mobile, the capsules (membranes) of the facet joints at the back of the vertebrae thicken. • • • • • Pain in the back Burning pain going into the buttocks and down into the legs (sciatica) Numbness, tingling, cramping, or weakness in the legs Loss of sensation in the feet A weakness in a foot that causes the foot to slap down when walking ("foot drop") Loss of sexual ability Spinal cord injury A spinal cord injury damages the spinal cord itself or nearby tissues and bones. Depending on the severity of the injury, you may lose function or mobility in different parts of your body. Treatments include surgery, medication and physical therapy This damage can cause temporary or permanent changes in feeling, movement, strength, and body functions below the site of injury Types of spinal cord injury 01 02 Incomplete encompass any SCI in which a person retains some feeling and/or function below the injury site in one or more areas of the body. complete occur when the spinal cord is fully compressed or severed, completely eliminating the brain's ability to send signals below the point of injury. levels of SCI injury cervical Cervical spinal cord injuries are the most prevalent, making up nearly 60% of all SCIs. They are also generally the most debilitating because the entire body can potentially be affected. thoracic Thoracic-level spinal cord injuries primarily affect sensation in the trunk and abdomen, as well as the muscles that make up your trunk and chest. As a result, individuals may experience difficulties with balance, posture, breathing, and coughing. lumber individuals with lumbar spinal cord injuries experience weakness or paralysis in their legs, they may struggle with walking and balance. sacral Because bowel and bladder functions are innervated by the bottommost segments of the sacral spinal cord, individuals with nearly any level of spinal cord injury are likely to experience bowel and bladder problems.. Syringomyelia Etiology Introduction a condition characterized by a fluidfilled cavity or cyst known as a syrinx that forms within the spinal cord. Syringomyelia is a chronic condition and a syrinx can expand over time compressing or destroying the surrounding nerve tissue • • • When CSF expands the central canal, and then forms a syrinx. Develops when the normal flow of CSF around the spinal cord or lower brain stem is disturbed. Associated conditions ( chiarimalformation) Types • Congenital – most often caused by a Chiari malformation. Hydrocephalus, a build up of excess CSF in the brain, larger than normal connected cavities called ventricles, Straining or coughing can increase the pressure within your head and brain, causing you to develop a headache or even lose consciousness. • Acquired • Idiopathic – Spinal cord tumour , the cause is Tethered cord , unknown. Arachnoiditis Meningitis symptoms • • • • • • • • Pain and weakness in the back, shoulders, arms or legs headaches reduced skin sensations, such as not being able to feel extremes of heat and cold loss of sensation in the hands, including sensations of pain muscle atrophy (wasting), usually beginning in the hands and spreading to include the arms and shoulders severe pain in the shoulders and neck reduced bowel and bladder control (in the later stages) sexual dysfunction. What is subacute combined degeneration and cause ? Subacute combined degeneration (SCD) is a neurological disorder characterized by degeneration of the spinal cord, particularly affecting the posterior and lateral columns due to demyelination most common because of deficiency in vitamin B12 , vitamin B12 effect the myelin sheath becomes more susceptible to damage, a process where the myelin breaks down, resulting in impaired transmission of nerve signals. Other Conditions affect myelin sheath • • • • Autoimmune Disorders: Conditions like multiple sclerosis (MS) Infections Genetic Disorders: like CharcotMarie-Tooth and leukodystrophies Metabolic Disorders: such as some lysosomal storage diseases, can lead to abnormal myelin formation or maintenance. Symptoms of SCD • • • • • • Sensory Disturbances: Numbness tingling, or other abnormal sensations often starting in the extremities. Muscle Weakness: Weakness in the muscles, which may affect coordination and daily activities Difficulty with Coordination Impaired balance and coordination, leading to unsteady movements Changes in Reflexes: Reflexes may be altered, with some becoming hyperactive or diminished. Difficulty Walking: As SCD progresses, individuals may experience difficulties with walking and may have a wide-based, unsteady gait Stiffness: A feeling of stiffness, especially in the legs. General Diagnosis Objective assessments including. • • • Medical history: A doctor will take a detailed medical history, including the circumstances and timing of the injury Physical examination to assess neurological function, including strength, sensation, and reflexes. Analysing patient attempts at completing an activity to Determine which part of the activity Day have problem with. General Diagnosis Diagnostic tests for spinal cord injuries may include • • • • • • • CT scan MRI X-ray SSEPs Diagnostic injections Electromyogram to determine the exact nerve root that is involved. Myelography to determine location and presence of abnormalities of the spinal cord. Post operative complications • When the surgery doesn’t work as it supposed too • Infection • Incomplete removal Of a Herniated disc Or a bone spur • Spinal fluid leak ( lower back – stenosis) • Paralysis • Injury to an individual nerve leads to weakness to a muscle or a group of muscles • Adverse effects of anaesthesia • Devices And influence You Questions Thank Any Resources ● ● ● ● ● ● ● ● ● ● ● ● ● https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Anatomy-of-the-Spine-andPeripheral-Nervous-System https://www.google.com/amp/s/www.spinalcord.com/blog/complete-vs.-incomplete-spinal-cordinjuries%3fhs_amp=true https://www.google.com/amp/s/www.spinalcord.com/blog/complete-vs.-incomplete-spinal-cordinjuries%3fhs_amp=truehttps://www.shutterstock.com/search/spinal-cord?image_type=il https://www.google.com/amp/s/www.spinalcord.com/blog/complete-vs.-incomplete-spinal-cordinjuries%3fhs_amp=truehttps://www.shutterstock.com/search/spinalcord?image_type=illustrationhttps://www.csiortho.com/blog/-rbef/2018 f/ 2018/golb/moc.ohtroisc.www//:sptth/enoyna ebruary// https://www.ninds.nih.gov/health-information/disorders/spinal-cord -injuryhttps://www.msdmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/spinal-corddisorders/overview-of-spinal-cord https://www.ninds.nih.gov/health-information/disorders/spinal-cord-injury https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/spinalhttps://www.google.com/amp/s/www.topdoctors.co.uk/medical-articles/spinal-cord-injury-an-expert-guideto-diagnosis-treatment-and-rehabilitation%3famp=1 https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/spinalcordhttps://radiopaedia.org/articles/complications-of-spinal-surgery