Arthritis, and Generalized muscle weakness

Diseases related with Arthritis and Generalized muscle weakness

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


Top matches:

Medium 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

Medium 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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q

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Other less relevant matches:

Low match MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT


Related symptoms:

  • Talipes equinovarus
  • Neonatal hypotonia
  • Facial palsy
  • Joint hyperflexibility
  • Generalized muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Low match NEMALINE MYOPATHY 10; NEM10


Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Low match AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA


Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.

AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA Is also known as isolated renal magnesium wasting|isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|homg2|renal hypomagnesemia type 2|magnesium loss, isolated renal

Related symptoms:

  • Seizures
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Muscle cramps


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A


Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Is also known as lgmd2a|muscular dystrophy, limb-girdle, type 1i|lgmd1i|limb-girdle muscular dystrophy due to calpain deficiency|primary calpainopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Low match HYALINE BODY MYOPATHY


Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).

HYALINE BODY MYOPATHY Is also known as myopathy, hyaline body, autosomal dominant|myopathy with lysis of type i myofibrils

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYALINE BODY MYOPATHY

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME


Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME Is also known as inclusion body myopathy type 3|ibm3|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|hibm3|inclusion body myopathy 3, autosomal dominant, formerly|ibm3, formerly|mypop|hereditary inclusion body myopathy type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Fatigue Facial palsy Scoliosis Elevated serum creatine phosphokinase Muscle cramps Scapular winging

Rare Symptoms - Less than 30% cases


Premature birth Difficulty climbing stairs Hypokalemia Distal muscle weakness Limb-girdle muscular dystrophy Short stature Waddling gait Muscular dystrophy Hyperlordosis Hypertension Hypomagnesemia Chondrocalcinosis Progressive muscle weakness Hypocalciuria Polyhydramnios Type 1 muscle fiber predominance Hypercalciuria Seizures Rickets Generalized hypotonia Ophthalmoplegia Hearing impairment Sensorineural hearing impairment EMG: myopathic abnormalities Centrally nucleated skeletal muscle fibers Renal magnesium wasting Gait disturbance Shoulder girdle muscle weakness Atrial fibrillation Difficulty walking Myalgia Reduced vital capacity Lower limb muscle weakness Wrist flexion contracture Abnormality of the cardiovascular system Elbow flexion contracture Muscle fiber splitting Back pain Toe walking Calf muscle hypertrophy Cardiomyopathy Pectoralis amyotrophy Spinal rigidity Pelvic girdle amyotrophy Scapular muscle atrophy Congenital finger flexion contractures Ankle contracture Generalized limb muscle atrophy Hamstring contractures Calf muscle pseudohypertrophy Dystonia Scapuloperoneal amyotrophy Respiratory distress Myokymia Facial grimacing Paroxysmal dyskinesia Paroxysmal dystonia Kernicterus Paroxysmal choreoathetosis Staring gaze Ptosis High palate External ophthalmoplegia Trismus Ragged-red muscle fibers Nasal speech Congenital contracture Steppage gait Myopathic facies Rimmed vacuoles Neck muscle weakness Limb-girdle muscle weakness Hand muscle weakness Progressive ophthalmoplegia Episodic ataxia Encephalitis Civatte bodies Rigidity Scapuloperoneal weakness Ataxia Spasticity Dysarthria Dysphagia Chronic fatigue Headache Myoclonus Dyspnea Joint stiffness Hyperkinesis Neurological speech impairment Spastic paraplegia Abnormality of movement Paraplegia Dyskinesia Chorea Migraine Choreoathetosis Involuntary movements Torticollis Dysesthesia Hyporeflexia of upper limbs Pulmonary embolism Hypocalcemia Small for gestational age Tachycardia Chest pain Growth hormone deficiency Hypotension Dehydration Anorexia Nephrocalcinosis Edema Hypercalcemia Glomerulonephritis Polyuria Hyperkalemia Polycythemia Hyperaldosteronism Hyperphosphatemia Vomiting Growth delay Alkalosis Coxa vara Abnormality of the dentition Craniosynostosis Dolichocephaly Carious teeth Genu valgum Delayed eruption of teeth Bone pain Elevated alkaline phosphatase Intellectual disability Bowing of the legs Hypophosphatemia Hyperparathyroidism Osteomalacia Spinal canal stenosis Abnormality of the lower limb Hypophosphatemic rickets Renal phosphate wasting Renal salt wasting Abnormality of the retinal vasculature Renal insufficiency Feeding difficulties Delayed gross motor development Difficulty running Axial muscle weakness Knee dislocation Distal upper limb muscle weakness Recurrent patellar dislocation Intrinsic hand muscle atrophy Respiratory insufficiency Neonatal hypotonia Respiratory failure Arthrogryposis multiplex congenita Decreased fetal movement Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Bulbar palsy Nemaline bodies Increased connective tissue Joint hyperflexibility Talipes equinovarus Metabolic alkalosis Renal potassium wasting Increased circulating renin level Respiratory arrest Hypokalemic metabolic alkalosis Hypokalemic alkalosis Abnormal choroid morphology Azotemia Increased urinary potassium Hyperactive renin-angiotensin system Gowers sign Hyperchloriduria Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Motor delay Falls Lumbar hyperlordosis Muscle fiber inclusion bodies



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