Wednesday, November 4, 2020

MUSCULAR DYSTROPHY

 

MUSCULAR DYSTROPHY

INTRODUCTION

The term muscular dystrophy refers to a group of inherited muscle-destroying diseases that cause progressive degeneration of skeletal muscle.

 

SIGN AND SYMPTOMS

Signs and symptoms vary with every type but some common are

progressive muscular wasting,

drooping eyelids, atrophy,

Scoliosis,

Inability to walk, frequent falls,

limited range of movement,

respiratory difficulty, joint contractures,

cardiomyopathy, arrhythmias,

muscle spasms,

gowers' sign. [2]

 

CLINICAL STAGES OF MUSCULAR DYSTROPHY

Stage 1: Early/pre-symptomatic

Stage 2: Early ambulatory (Walking)

Stage 3: Late Ambulatory (going off feet)

Stage 4: Early non-ambulatory

Stage 5: Late non-ambulatory

Stage 6 Palliative Cares / End of Life. [3]

 

EPIDEMIOLOGY

Duchenne muscular dystrophy is the most common form of MD.

DMD strikes boys almost exclusively. (World wide about 1 in every 3500 male babies)

Age of onset differs with every type.

 

TYPES

A. Duchenne (most common) and Becker

B. Emery-Dreifuss

C. Limb-girdle,

D. Facioscapulohumeral,

E. Distal

F. Oculopharyngeal.

 

ETIOLOGY

Muscular dystrophies are caused by mutations in genes encoding proteins that are essential for normal muscle function.

The main gene associated is Dystrophin gene.

 

ANIMAL MODELS

MOUSE MODEL:mdx mouse(X-chromosome-linked muscular dystrophy)

CANINE MODEL(Golden retriever (GRMD) German shorthaired pointers (GSHPMD)

 

DIAGNOSIS OF MUSCULAR DYSTROPHY

Family history

Blood test

Electromyography

Muscle biopsy

Histopathology

DNA test

Gene sequencing

Magnetic Resonance Imaging

 

PHARMACOLOGICAL APPROACH

Drug treatment

Gene therapy

Stem Cell Therapy

Physical and Occupational Therapy

Psychological, Orthopedic, Respiratory and CardiovascularManagement

Rehabilitation

Ongoing clinical trials of various new therapies for muscular dystrophy.

 

COMPLICATION AND THEIR MANAGMENT

Scoliosis and Contractures

Pulmonary Complications

Cardiac Complications

Obesity.

 

Lumbar Spine Exam

  

Lumbar Spine Exam

Submitted by Dr.Raj on Fri, 2006-03-24 19:19.

How do you peform Inspection of the lumbar spine?

Anterior examination 

·         Patients with low back pain maintain a rigid posture to avoid bending, twisting and other movements that can precipitate pain.

·         If there is disc herniation lateral to the nerve root, patient may list away from the side to draw the nerve root away from the disc. If the disc herniation is medial to the nerve root, patient lists towards the side of the lesion.

Side examination

·         Ear lobe should be in line with the tip of the shoulder and peak of the iliac crest.

·         A gentle lordosis is normal. Exaggerated lordosis is seen in hip flexor contracture, weak hip extensors, spondylolisthesis.

Posterior examination

·         Look for redness, skin markings, hairy patches, café au lait spots, birth marks, fatty masses, skin tags

·         Inspect the shoulder, scapula and iliac crest for scoliotic curve.

How do you palpate the lumbar spine?

·         Iliac crest - put hands on iliac crests on both sides at L4,5 level. Compare the 2 sides of iliac crests.

·         Spine - palpate the spine and look for any step off seen in spondylolisthesis

·         Tender or Trigger point - palpate paraspinal muscles for any tender point or a trigger point with taut band and muscle twitch response.

What are the tests to detect increased intrathecal pressure?

Kernig test

·         Maneuver: Flex hip and knee to 90 degrees and now slowly extend the leg

·         Response: Resistance to extension due to pain is a positive test

Brudzinski's test

·         Maneuver: Passively flex the neck

·         Response: Flexion of knee is a positive test and indicates meningitis

Milgram test

·         Maneuver: Raise both legs up and ask him to hold the position as long as he can

·         Response: If patient cannot hold for 30 seconds then intrathecal pathology is likely

How do you measure segmental motion of the Lumbar spine?

Schober Test

·         Maneuver: Mark S1 (venus dimples) and mark 10 cm above this point while patient is standing erect. Patient is asked to flex forward and measure the increase in distance.

·         Response: Normal motion of the lumbar spine should be atleast 4-5 cm

Modified Schober Test

·         Maneuver: Mark S1 (venus dimples) when patient is erect. Make a mark 10 cm above S1 and 5 cm below the S1. Patient is asked to bend forward and measure the increase in distance between the marks above and below.

·         Response: Normal motion of the lumbar spine should be atleast 4-5 cm.

Describe the tests useful in diagnosing lumbar disc herniation?

SLR

·         Maneuver: support the foot with one hand and put the other hand on the top of the knee to prevent it from bending and lift the leg up. Elevation of the leg is stopped when patient begins to feel any pain. 

·         Response: Record the type and distribution of pain as well as the angle of elevation that caused it. The test is positive when the angle is between 30 and 70 degrees and the pain is reproduced down the posterior thigh behind the knee.  If there is pain limited to the posterior thigh then it is likely hamstring pain. 

Crossed SLR

·         Maneuver: Perform a SLR

·         Response: If the patient complains of pain in the other leg then it is crossed SLR positive

Braggard's sign

·         Maneuver: Perform a SLR to the point of pain provocation. Now drop the leg slightly to a non painful range and dorsiflex the foot

·         Response: If pain reproduced it is due to sciatica or disc herniation

Bowstring

·         Maneuver: SLR is done and when positive, flex the leg and apply pressure to the Tibial nerve in the popliteal fossa.

·         Response: If pain is reproduced in the distribution of patient's complaints then it is positive for sciatica or nerve root irriatation.

Slump Test

·         Maneuver: Patient sits in the chair with arms behind the back. Now passively extend the knee and ask if the patient has any radiating pain. Now ask patient to slump forward to produce full trunk flexion and tuck chin in. Pressure can be added to the head to increase neck flexion.

·         Response: Reproduction of pain in the distribution of patient's complaints is positive for sciatica or nerve root irritation.

Femoral nerve stretch test

·         Maneuver: Patient lies prone. Examiner places palm of the hand in the popliteal fossa and flexes the knee.

·         Response: Excruciating pain along the anterior aspect of the thigh. The test should reproduce the pain in the distribution of patient's complaints.

Crossed femoral nerve stretch test

·         Maneuver: Perform a Femoral nerve stress test

·         Response: Patient should experience pain in the distribution of patient's complaints in the contralateral leg

What are simple tests to assess nerve roots?

Heel walking test

·         Maneuver: Ask patient to walk on heel

·         Response: Inability to walk on heel is indicative of L5 weakness

Toe walking test

·         Maneuver: Ask patient to walk on toes

·         Response: Inability to walk on toes is indicative of S1 weakness

What are the tests to detect myofascial pain?

Skin pinch test

·         Maneuver: pinch the skin and roll between thumb and index finger

·         Response: any tenderness is indicative of myofascial pain

Percussion test

·         Maneuver: percuss the paraspinal muscles

·         Response: Pain is indicative of myofascial origin

What are the tests for malingering?

Hoover test

·         Maneuver: Cup hands under both feet and ask patent to lift one leg at a time

·         Response: If the pt is trying he will press the other leg down. If pt is not trying there won’t be any pressure under the other leg.

Waddell signs (mnemonic - ROADS)

·         Regionalization - weakness or sensory loss without a pattern. Patient may complain of numbness involving the entire extremity, entrire leg, leg below the knee, quarter or half of the body.  In patients with normal strength, the sudden letting go of a muscle may be described as "cogwheeling". In patients with physical weakness, the muscle is smoothly overpowered with no jerking, and the response throughout a resisted range-of-motion maneuver remains smooth and constant. Patient with non organic pain does not have this smooth motion.

·         Overreaction - exaggerated response to non painful stimulus. Patient may exaggerate response to non painful stimulus in the form of facial expressions, tremor, verbalization, muscle tension or fainting. Patient may be hypersensitive to light touch at one point during examination but later give no response to touching of the same area.

·         Non Anatomic pain  - Tenderness that crosses multiple somatic boundaries without any anatomic distribution. Patient also shows dramatic reproduction of pain with light touch of the back or skin rolling.

·         Distraction - Patient may complain of pain or limitation in range in a supine straight leg raising test but there is lack of pain when examiner extends the knee with the patient seated, and looking at the foot for pulses,  Babinski or reflex testing. 

·         Simulation - These give the patient the impression that a particular test is being carried out when in fact it is not. Pressing down on the top of the head of a standing patien should not produce low back pain.Low back pain on sham rotation of the spine or axial loading. In a standing position, when the shoulders and pelvis are rotated in unison, the structures in the back are not stressed and should not cause any pain.

 

चरक निदानस्थान quetions

                  निदानस्थान       click to dowload   1) Explain the sadhyaasadhyata of Prameha.     ( 5 marks )   ...