Flexion contracture, and Fatigue

Diseases related with Flexion contracture and Fatigue

In the following list you will find some of the most common rare diseases related to Flexion contracture and Fatigue that can help you solving undiagnosed cases.

Top matches:

Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5|myophosphorylase deficiency|glycogen storage disease type v|muscle glycogen phosphorylase deficiency|gsd due to muscle glycogen phosphorylase deficiency|mcardle disease|gsd type v|glycogenosis type 5|glycogenosis type v|gsd

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Other less relevant matches:

Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Top 5 symptoms//phenotypes associated to Flexion contracture and Fatigue

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Muscle cramps Common - Between 50% and 80% cases
Facial palsy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Fatigue. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Myalgia Limb muscle weakness Proximal muscle weakness Ptosis Easy fatigability Motor delay Exercise intolerance Elevated serum creatine phosphokinase Progressive muscle weakness Dysarthria Ophthalmoparesis Pain Scoliosis Respiratory failure Centrally nucleated skeletal muscle fibers Feeding difficulties Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Gowers sign Proximal amyotrophy Limb-girdle muscle weakness Muscular hypotonia Cardiomyopathy Arthrogryposis multiplex congenita Decreased fetal movement Seizures Intellectual disability Ataxia Cleft palate Talipes equinovarus Depressivity Rigidity Hyporeflexia Peripheral neuropathy Increased variability in muscle fiber diameter Type 2 muscle fiber atrophy Scapular winging Myoglobinuria Difficulty walking Dark urine Exercise-induced muscle cramps Muscle stiffness Ophthalmoplegia Dysphagia Exercise-induced myalgia Lower limb muscle weakness Pes planus Kyphoscoliosis Neonatal hypotonia Areflexia Hypertrophic cardiomyopathy Intrauterine growth retardation Fever Hip dislocation Cognitive impairment Muscular dystrophy Talipes Generalized muscle weakness Polyhydramnios Global developmental delay Neuritis Sensory neuropathy Decreased CSF homovanillic acid Transient hyperphenylalaninemia Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Radial head subluxation Cutis gyrata of scalp Diabetes mellitus Type II diabetes mellitus Peripheral axonal degeneration Type I diabetes mellitus Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Peripheral arterial stenosis Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Limb-girdle muscular dystrophy Congenital hip dislocation Malignant hyperthermia Myopathic facies Blepharophimosis Hyperhidrosis Upslanted palpebral fissure Narrow mouth Deeply set eye Axonal degeneration Paralysis Narrow palpebral fissure Finger syndactyly Syndactyly Facial asymmetry Paresthesia Postural instability Narrow face Bifid uvula Sensory impairment Hypotelorism Focal dystonia Edema Spinal rigidity Stooped posture Hoarse voice Nemaline bodies Weak voice Type 1 muscle fiber predominance Dysesthesia Skeletal myopathy Generalized limb muscle atrophy Minicore myopathy Facial paralysis Short stature Abnormal facial shape Low-set ears Chronic pain Depressed nasal bridge Epicanthus Abnormality of the skeletal system Respiratory distress Progressive flexion contractures Hearing impairment Generalized dystonia High palate Difficulty running Achilles tendon contracture Areflexia of lower limbs Abnormal pupil morphology Hyporeflexia of lower limbs Weakness of the intrinsic hand muscles Strabismus Mandibular prognathia Elbow flexion contracture Long face Dental malocclusion Respiratory insufficiency due to muscle weakness Decreased muscle mass Abnormality of the immune system Weak cry Fatigable weakness External ophthalmoplegia Frequent falls Decreased size of nerve terminals Apnea Renal insufficiency Abnormality of the cardiovascular system Rhabdomyolysis Acute kidney injury Acute rhabdomyolysis Exercise-induced rhabdomyolysis Nystagmus Knee flexion contracture Falls Hyperlordosis Distal muscle weakness Waddling gait Calf muscle hypertrophy Rimmed vacuoles Increased connective tissue Nyctalopia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Anemia Limb dystonia Abnormality of extrapyramidal motor function Pes cavus Gait ataxia Hypothyroidism Anxiety Sleep disturbance Parkinsonism Bradykinesia Horizontal nystagmus Hypertension Torticollis Rheumatoid arthritis Obsessive-compulsive behavior Postural tremor Brisk reflexes Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Babinski sign Reduced erythrocyte 2,3-diphosphoglycerate concentration Blindness Cerebral visual impairment Vomiting Jaundice Arthritis Corneal opacity Nausea and vomiting Nausea Hemolytic anemia Cholelithiasis Increased muscle glycogen content Polycythemia Reticulocytosis Gout Nonspherocytic hemolytic anemia Increased total bilirubin Gastric ulcer Exercise-induced myoglobinuria Brachial plexus neuropathy


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