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:
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
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
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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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
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
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
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
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
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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Frontal bossing and Single transverse palmar crease, related diseases and genetic alterations
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