Arthritis, and Muscle cramps

Diseases related with Arthritis and Muscle cramps

In the following list you will find some of the most common rare diseases related to Arthritis and Muscle cramps that can help you solving undiagnosed cases.


Top matches:

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


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

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

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Other less relevant matches:

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

Low match BRODY MYOPATHY


Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).

Related symptoms:

  • Pain
  • Spasticity
  • Flexion contracture
  • Fever
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BRODY MYOPATHY

Low match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY


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

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G


Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

Related symptoms:

  • Muscle weakness
  • Cataract
  • Myopathy
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G

Top 5 symptoms//phenotypes associated to Arthritis and Muscle cramps

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Myalgia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Exercise intolerance Elevated serum creatine phosphokinase Vomiting Hearing impairment Flexion contracture Anemia Muscle weakness Myoglobinuria Hypothyroidism Tachycardia Chest pain Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Cataract Easy fatigability Fever Polyuria Anorexia Polycythemia Renal insufficiency Hypotension Edema Paresthesia Coronary artery atherosclerosis Gout Dark urine Myotonia Exercise-induced muscle cramps Myocardial infarction Gait disturbance Diabetes mellitus Nausea Arthralgia Muscle stiffness Peripheral neuropathy Limb muscle weakness Generalized muscle weakness Rickets Corneal opacity Abnormality of the cardiovascular system Respiratory failure Nausea and vomiting Cardiomyopathy Seizures Hypercalciuria Chronic fatigue Prominent supraorbital ridges Myocardial fibrosis Sinus bradycardia Clubbing of fingers Achalasia Chronic obstructive pulmonary disease Angina pectoris Chronic kidney disease Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Abnormality of femur morphology Restrictive cardiomyopathy Atrioventricular block Periorbital fullness Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Ischemic stroke Tinnitus Abnormal mitral valve morphology Reduced bone mineral density Ventricular arrhythmia Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Oligospermia Abnormality of the nose Large earlobe Abnormality of the hand Abnormality of the gastrointestinal tract Impaired vibratory sensation Abnormality of the renal tubule Clubbing Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Tricuspid regurgitation Heart murmur Elevated erythrocyte sedimentation rate Diabetes insipidus Impotence Anhidrosis Emphysema Bundle branch block Loss of consciousness Telangiectasia of the skin Glomerulopathy Tubular atrophy Abnormality of lipid metabolism Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Hemiplegia Abnormal heart valve morphology Aortic root aneurysm Wheezing Glomerulosclerosis Renal tubular acidosis Glycosuria Polydipsia Personality changes Abnormal thrombosis Reduced sperm motility Abnormal cornea morphology Dysphagia Difficulty walking Spasticity Skeletal muscle hypertrophy Ophthalmoparesis EMG abnormality Ophthalmoplegia Hypertonia Cornea verticillata Spastic paraparesis Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Paraparesis Skeletal muscle atrophy Tenesmus Limb-girdle muscular dystrophy Decreased movement range in interphalangeal joints Proximal upper limb amyotrophy Proximal lower limb amyotrophy Pelvic girdle muscle weakness Shoulder girdle muscle weakness Progressive proximal muscle weakness Rimmed vacuoles Lower limb muscle weakness Progressive muscle weakness Muscular dystrophy Proximal muscle weakness Hyporeflexia Exercise-induced rhabdomyolysis Acute rhabdomyolysis Exercise-induced myalgia Acute kidney injury Rhabdomyolysis Heavy proteinuria Left ventricular septal hypertrophy Dysesthesia Vascular skin abnormality Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Decreased female libido Increased blood urea nitrogen Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Distal renal tubular acidosis Progressive hearing impairment Tortuosity of conjunctival vessels Mucosal telangiectasiae Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Concentric hypertrophic cardiomyopathy Angiokeratoma Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Corneal dystrophy Sudden cardiac death Abnormal intestine morphology Lipoma Abnormal adipose tissue morphology Increased HDL cholesterol concentration Neuropathic arthropathy Decreased LDL cholesterol concentration Alcoholism Hyperlipoproteinemia Oligomenorrhea Macrocytic anemia Growth delay Arthropathy Multiple lipomas Axonal degeneration Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Ragged-red muscle fibers Reduced tendon reflexes Intellectual disability Polyhydramnios Insulin resistance Hyperkalemia Abnormality of the retinal vasculature Chondrocalcinosis Alkalosis Renal salt wasting Hypomagnesemia Hyperphosphatemia Hyperaldosteronism Glomerulonephritis Small for gestational age Hypercalcemia Hypokalemia Nephrocalcinosis Hypocalcemia Dehydration Growth hormone deficiency Premature birth Hoarse voice Abnormality of the skin Increased circulating renin level Coxa vara Abnormality of the lower limb Spinal canal stenosis Osteomalacia Hyperparathyroidism Hypophosphatemia Bowing of the legs Elevated alkaline phosphatase Bone pain Renal phosphate wasting Delayed eruption of teeth Genu valgum Carious teeth Dolichocephaly Craniosynostosis Abnormality of the dentition Scoliosis Hypophosphatemic rickets Blindness Polyneuropathy Increased muscle glycogen content Abnormality of the liver Joint stiffness Pes cavus Babinski sign Hepatomegaly Neoplasm Reduced erythrocyte 2,3-diphosphoglycerate concentration Exercise-induced myoglobinuria Jaundice Gastric ulcer Increased total bilirubin Nonspherocytic hemolytic anemia Reticulocytosis Cholelithiasis Cerebral visual impairment Hemolytic anemia Metabolic alkalosis Respiratory arrest Aortic regurgitation Bulbous nose Urinary incontinence Syncope Abdominal distention Nephropathy Hematuria Thick vermilion border Thick eyebrow Stage 5 chronic kidney disease Nephrotic syndrome Vertigo Delayed puberty Malabsorption Abnormality of the cerebral white matter Pruritus Papule Prominent nasal bridge Mitral valve prolapse Ventricular hypertrophy Stroke Bradycardia Ventricular tachycardia Hyperlipidemia Purpura Aminoaciduria Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Lymphedema Thick lower lip vermilion Hypohidrosis Left ventricular hypertrophy Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Atrial fibrillation Cough Skin rash Hypocalciuria Abnormal sclera morphology Diarrhea Respiratory insufficiency Optic atrophy Cognitive impairment Abnormality of prostaglandin metabolism Impaired reabsorption of chloride Secondary hyperaldosteronism Hyperchloriduria Behavioral abnormality Hyperactive renin-angiotensin system Renal potassium wasting Increased urinary potassium Azotemia Abnormal choroid morphology Hypokalemic alkalosis Hypokalemic metabolic alkalosis Congestive heart failure Headache Developmental regression Mandibular prognathia Abnormality of the kidney Hypertrophic cardiomyopathy Abnormality of the nervous system Proteinuria Anxiety Carcinoma Coarse facial features Dyspnea Dilatation Hyperkeratosis Abdominal pain Hyperhidrosis Posteriorly rotated ears Constipation Arrhythmia Depressivity Midface retrusion Flexion limitation of toes



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