Skeletal Muscle Weakness: Causes & Reasons

Possible Causes for Skeletal Muscle Weakness

Autosomal Recessive Centronuclear Myopathy

muscle weakness. [invitae.com]

[…] characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. [icdlist.com]

[…] stenosis 0002021 Respiratory insufficiency due to muscle weakness 0002747 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 Urinary incontinence Loss of [rarediseases.info.nih.gov]

McArdle Disease

Glycogen storage disease type V (GSD V) is an inherited disorder of glycogen metabolism that affects the skeletal muscle. [genedx.com]

Three patients were wheelchair dependent due to skeletal muscle involvement (signs of permanent muscle weakness with atrophy). [link.springer.com]

[…] features Pain: Legs > Arms Fatigue Cramps: Proximal muscles Muscle size Atrophy: Proportionate to weakness May be mild calf hypertrophy Tendon reflexes: Reduced in proportion [neuromuscular.wustl.edu]

Muscular Dystrophy

From Wikidata Jump to navigation Jump to search myopathy characterized by progressive skeletal muscle weakness degeneration edit English muscular dystrophy myopathy characterized [wikidata.org]

[…] by progressive skeletal muscle weakness degeneration MD Muscular dystrophy, MD Statements Identifiers Sitelinks Wikipedia (33 entries) edit Wikibooks (0 entries) edit Wikiquote [wikidata.org]

Erb Muscular Dystrophy

Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the [mda.org]

Inherited disease that causes progressive weakness in the skeletal (and occasionally heart) muscle. [seslisozluk.net]

Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. [icd10data.com]

Barth Syndrome

muscle weakness, or family history indicating an X-linked pattern of inheritance. [ncbi.nlm.nih.gov]

This disease is characterized by cardiac abnormalities, skeletal muscle weakness, recurrent infections due to low white blood cell (immune cell) counts, and delayed growth [mitochondrialdiseasenews.com]

Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal [ncbi.nlm.nih.gov]

Congenital Myopathy with Excess of Thin Filaments

[…] delay; skeletal muscle weakness; respiratory weakness; drooling; speech impairment; maximum motor function achieved: climb 4 stairs with handrail; electron microscopy result [catalog.coriell.org]

To date no therapy exists to treat muscle weakness in nemaline myopathy. [research.vu.nl]

The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. [jmg.bmj.com]

Nemaline Myopathy Type 5

INTRODUCTION: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of [ncbi.nlm.nih.gov]

Introduction : Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence [pubfacts.com]

Polymyositis

It presents with symmetric proximal muscle weakness and elevated skeletal muscle enzymes. [visualdx.com]

DEFINITION Polymyositis is an idiopathic inflamatory myopathy that causes symmetrical proximal muscle weakness, elevated skeletal muscle enzyme levels,characteristic electromyograhic [de.slideshare.net]

The inflammatory myopathies represent the largest group of acquired and potentially treatable causes of skeletal muscle weakness. [accessmedicine.mhmedical.com]

Alpha-B Crystallinopathy

muscle weakness. [ncbi.nlm.nih.gov]

However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and [ncbi.nlm.nih.gov]

These conditions are highly variable but are characterized by a slowly progressive muscle weakness that can involve skeletal muscle (muscles that function to move bones) and [rarediseases.org]

Nemaline Myopathy

Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle [ncbi.nlm.nih.gov]

Patients develop large joint contractures during childhood, followed by slowly progressive skeletal muscle weakness during adulthood. [ncbi.nlm.nih.gov]

Nemaline myopathy is a rare, slowly progressive neuromuscular disorder, characterized by generalized skeletal and smooth muscle weakness and hypotonia. [ncbi.nlm.nih.gov]

Congenital Fiber-Type Disproportion Myopathy

Abstract Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. [ncbi.nlm.nih.gov]

Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. [pubfacts.com]

The myopathy may be progressive and individuals with extensive skeletal muscle weakness may have respiratory insufficiency and scoliosis. [disorders.eyes.arizona.edu]

Hypergonadotropic Hypogonadism - Partial Alopecia

Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes. [ab-y-ss.com]

Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.. [antibodyplus.com]

LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes. [genscript.com]

Myopathic Carnitine Deficiency

Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. [allmedx.com]

Disease presents in early childhood with a progressive heart disorder (cardiomyopathy) and skeletal muscles weakness and pain (myopathy), low blood levels of L-carnitine, [nutrientsreview.com]

Children with the childhood myopathic (cardiac) type usually present between ages two to four with heart disease (cardiomyopathy), low muscle tone (hypotonia), skeletal muscle [rarediseases.org]

Myofibrillar Myopathy Type 4

MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in [genecards.org]

Skeletal muscle weakness typically starts in distal leg muscles and spreads to proximal muscles, a trend that is about 3 times more common than the opposite ( 69 ). [jci.org]

In particular, a muscle biopsy is indicated in patients with suspected skeletal muscle disease who present with unexplained weakness, muscle cramps or pain, elevated CPK levels [therapath.com]

Central Core Disease

Primary (inherited) mitochondrial myopathy, or PMM, is characterised by debilitating fatigue, skeletal muscle weakness and exercise intolerance. [freethesaurus.com]

Central core disease is characterised by muscle weakness, skeletal deformities and susceptibility to malignant hyperthermia. [ncbi.nlm.nih.gov]

These diseases cause the skeletal or voluntary muscles to become weak or wasted. [physio-pedia.com]

Myasthenia Gravis

Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by skeletal muscle weakness which can impact motor function and, furthermore, produce negative impact [ncbi.nlm.nih.gov]

Abstract Myasthenia gravis is a chronic neuromuscular disorder that causes skeletal muscle weakness. [ncbi.nlm.nih.gov]

Myasthenia gravis is an autoimmune disease of the neuromuscular junction characterized by painless fluctuating skeletal muscle weakness. [ncbi.nlm.nih.gov]

Multicore Myopathy with External Ophthalmoplegia

Lester, MD M ulticore myopathy is a skeletal biopsy is the presence of multiple muscle disorder causing proxi- small cores within muscle fibers from ma1 skeletal muscle weakness [myslide.es]

This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. [en.wikipedia.org]

muscle atrophy Muscle weakness Trophic changes related to pain Areflexia High palate Proximal muscle weakness Torticollis Distal muscle weakness Joint laxity Global developmental [mendelian.co]

Transient Neonatal Myasthenia Gravis

Overview of Myasthenia Gravis Myasthenia gravis (MG) is a chronic autoimmune disorder that results in progressive skeletal muscle weakness. [healthcommunities.com]

A defect in the transmission of impulses from nerve endings in the muscle fibers result in the development of skeletal muscle weakness. [hmcisrael.com]

skeletal muscle weakness [5]. [intechopen.com]

Limb-Girdle Muscular Dystrophy Type 1H

Affiliated tissues include skeletal muscle, and related phenotypes are centrally nucleated skeletal muscle fibers and muscle weakness Disease Ontology : 12 An autosomal dominant [malacards.org]

[…] wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. [mendelian.co]

LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes. [abcam.com]

Becker Muscular Dystrophy

Becker Muscular Dystrophy (BMD) patients have a more variable presentation of skeletal muscle weakness have a better prognosis, with most patients surviving to age 40-50 cardiac [escardio.org]

There is symmetric skeletal muscle weakness/wasting without denervation (sensation and reflexes are intact). [openanesthesia.org]

Patients are often wheelchair-bound by age 12 Becker is characterized by later-onset skeletal muscle weakness Patients remain ambulatory into their 20s Despite milder skeletal [en.wikibooks.org]

Autosomal Dominant Progressive External Ophthalmoplegia Type 6

Systemic Features: Adult patients with SLC25A4 (4q35.1) and mtDNA ( ANT1 ) mutations have exercise intolerance and sometimes skeletal muscle weakness. [disorders.eyes.arizona.edu]

Pharyngeal, facial, and skeletal muscle weakness seem to be common features. [disorders.eyes.arizona.edu]

muscle weakness and cardiac involvement ( Dalakas et al., 2000 ). [frontiersin.org]

Carnitine Transporter Deficiency

weakness, and elevated serum creatine kinase. [rarediseases.org]

Some children with the infantile presentation may also have symptoms of muscle disease. [rarediseases.org]

Hereditary Proximal Myopathy with Early Respiratory Failure

Hereditary myopathy with early respiratory failure ( HMERF ) is characterized by adult-onset distal or proximal skeletal muscle weakness with respiratory muscle weakness involvement [invitae.com]

Respiratory muscle weakness can also be a major complication in some patients. [medlink.com]

Myasthenia gravis may present with respiratory failure with skeletal muscle weakness [ Qureshi et al 2004 ]. [ncbi.nlm.nih.gov]

Zebra Body Myopathy

[…] in skeletal muscle biopsy. [mendelian.co]

the skeletal muscles. [understandingmyositis.org]

ORPHA:401768 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... [mousephenotype.org]

Pompe Disease

The adult onset form presents in the third to sixth decade and is similar to the juvenile form but with a slower progression of skeletal muscle weakness. [genedx.com]

GSD2 is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. [ncbi.nlm.nih.gov]

Both non-classic infantile GSD2 and late-onset Pompe disease are characterized by skeletal muscle weakness. [symptoma.com]

Limb-Girdle Muscular Dystrophy Type 1E

muscle weakness. [ncbi.nlm.nih.gov]

Limb Girdle Muscular Dystrophy (Last Updated On: May 11, 2017) Limb girdle muscular dystrophies is a group of muscular diseases involving skeletal muscles and causing proximal [interestingmedical.com]

Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. [icd10data.com]

Emery-Dreifuss Muscular Dystrophy Type 1

[…] of the SKELETAL MUSCLE. [doctor.am]

muscle weakness and degeneration. [biochemsoctrans.org]

Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. [icd10data.com]

Nemaline Myopathy Type 4

These abnormal rod structures are associated with problems in the contraction and tone of affected skeletal muscles, ultimately leading to muscle weakness. [rarediseases.org]

Symptoms start early during childhood and involve muscle weakness, muscle pain, fatigue, tachycardia, frivolous breathing and rhabdomyolysis. 10. [mdahellas.gr]

BMD is characterized by later onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. [blueprintgenetics.com]

Muscular Dystrophy-Dystroglycanopathy Type B6

All of these diseases may be associated with areflexia, hypotonia, and skeletal muscle weakness. Physical examination can help differentiate among these categories. [mhmedical.com]

The characterizing neuromuscular features of classical adult-onset DM1 (ADM1) are skeletal muscle weakness, myotonia, and muscle pain. [jbsr.be]

Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. [icd10data.com]

Polyglucosan Body Myopathy Type 2

weakness Skeletal muscle atrophy Limb-girdle muscle weakness Slow progression Variable expressivity ... [familydiagnosis.com]

weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. [genecards.org]

Previous studies showed that skeletal muscle weakness and cardiomyopathy with or without autoinflammation and immunodeficiency occurred in 18 PGBM1 patients from 14 European [bmcmusculoskeletdisord.biomedcentral.com]