Arthritis, and Distal muscle weakness

Diseases related with Arthritis and Distal muscle weakness

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


Top matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


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

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Other less relevant matches:

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3


Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D


COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Low match GENERALIZED PUSTULAR PSORIASIS


Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

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 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

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

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Hypertension Proximal muscle weakness Rheumatoid arthritis Scoliosis Myopathy Impaired vibration sensation in the lower limbs Pain

Rare Symptoms - Less than 30% cases


Lower limb hyperreflexia Brisk reflexes Postural tremor Abnormality of extrapyramidal motor function Obsessive-compulsive behavior Torticollis Horizontal nystagmus Bradykinesia Parkinsonism Sleep disturbance Anxiety Limb dystonia Transient hyperphenylalaninemia Generalized dystonia Waddling gait Skin rash Arthralgia Irregular epiphyses Small epiphyses Multiple epiphyseal dysplasia Mild short stature Epiphyseal dysplasia Osteoarthritis Spasticity Progressive flexion contractures Abnormality of the dentition Genu valgum Difficulty walking Gait disturbance Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Hypothyroidism Decreased CSF homovanillic acid Rigidity Focal dystonia Gait ataxia Limb muscle weakness Paraplegia Lower limb muscle weakness Hyperreflexia Sensorineural hearing impairment Tremor Peripheral neuropathy Spastic paraplegia Mildly elevated creatine phosphokinase Talipes equinovarus Intellectual disability Depressivity Abnormal facial shape Flexion contracture Osteochondritis Dissecans Oligoarthritis Palmoplantar pustulosis Periostitis Flattened epiphysis Hypoplasia of the capital femoral epiphysis Asthenia Abnormality of the skeletal system Geographic tongue Generalized hypotonia Chills Neutrophilia Psoriasiform dermatitis Headache Erythema Nail dystrophy Nausea Nail dysplasia Epidermal acanthosis Leukocytosis Knee osteoarthritis Osteomyelitis Pustule Parakeratosis Furrowed tongue Cholangitis Abnormal joint morphology Edema Inflammatory abnormality of the skin Glaucoma Renal phosphate wasting Hypodontia Short palm Micromelia Frontal bossing Vasculitis in the skin Depressed nasal bridge Hypophosphatemic rickets Hypercalciuria Abnormality of the lower limb Spinal canal stenosis Osteomalacia Hyperparathyroidism Hypophosphatemia Bowing of the legs Rickets Limitation of joint mobility Elevated alkaline phosphatase Hyperkeratosis Dolichocephaly Dry skin Mitral regurgitation Aortic valve stenosis Atopic dermatitis Pulmonary edema Calcification of the aorta Craniosynostosis Carious teeth Hip dysplasia Genu varum Delayed eruption of teeth Abnormality of epiphysis morphology Muscle cramps Generalized muscle weakness Bone pain Coxa vara Fever Strabismus Discoid lupus rash Motor delay Distal amyotrophy Hoarse voice Progressive peripheral neuropathy Vocal cord paresis Ataxia Nystagmus Hypertonia Hyporeflexia Behavioral abnormality Dystonia Encephalopathy Hyperlordosis Irritability Abnormal pyramidal sign Abnormality of the foot Areflexia Confusion Progressive spastic paraplegia Dementia Sensory neuropathy Urinary incontinence Lower limb spasticity Spastic gait Urinary urgency Impaired distal vibration sensation Dysphagia Impaired temperature sensation Impaired distal proprioception Demyelinating motor neuropathy Demyelinating sensory neuropathy Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Abnormality of movement Abnormal cerebellum morphology Angioedema Leukemia Knee pain Abnormality of the hip joint Renal insufficiency Immunodeficiency Recurrent infections Autoimmunity Vasculitis Easy fatigability Purpura Systemic lupus erythematosus Glomerulonephritis Fatigable weakness Antinuclear antibody positivity Membranoproliferative glomerulonephritis Delayed epiphyseal ossification Short metacarpal Involuntary movements Upper motor neuron dysfunction Cerebral palsy Dysphonia Spastic diplegia Gaze-evoked nystagmus Resting tremor Hyperactive deep tendon reflexes Torsion dystonia Elevated serum creatine phosphokinase Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Ankle pain



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