Arthritis, and Distal sensory impairment

Diseases related with Arthritis and Distal sensory impairment

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


Top matches:

Medium 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 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

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

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Other less relevant matches:

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C


Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as charcot-marie-tooth neuropathy, dominant intermediate c|di-cmtc|cmtdic

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Distal muscle weakness
  • Abnormality of the foot
  • Distal amyotrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C

Low match HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME


Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.

HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME Is also known as calcification of joints and arteries|calja|acdc|arterial calcification due to deficiency of cd73

Related symptoms:

  • Pain
  • Diabetes mellitus
  • Arthralgia
  • Arthritis
  • Paresthesia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME

Low match FAMILIAL COLD URTICARIA


Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Top 5 symptoms//phenotypes associated to Arthritis and Distal sensory impairment

Symptoms // Phenotype % cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Rheumatoid arthritis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Impaired vibration sensation in the lower limbs Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Fatigue Paraplegia Arthralgia Spasticity Pes cavus Babinski sign Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Torticollis Generalized dystonia Horizontal nystagmus Obsessive-compulsive behavior Postural tremor Brisk reflexes Abnormality of extrapyramidal motor function Limb dystonia Lower limb hyperreflexia Transient hyperphenylalaninemia Focal dystonia Progressive flexion contractures Decreased CSF homovanillic acid Parkinsonism Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Nystagmus Motor delay Tremor Gait disturbance Hyperhidrosis Malabsorption Cerebral palsy Bradykinesia Rigidity Sleep disturbance Skeletal muscle atrophy Hyperreflexia Dementia Proximal muscle weakness Spastic paraplegia Fever Peripheral demyelination Sensory neuropathy Urinary incontinence Arrhythmia Anxiety Sensorineural hearing impairment Headache Pain Impaired temperature sensation Hypertension Hypothyroidism Gait ataxia Depressivity Talipes equinovarus Ataxia Intellectual disability Areflexia Hyporeflexia Paresthesia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Syringomyelia Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Atrioventricular block Cachexia Strabismus Spastic paraparesis Coma Congestive heart failure Renal insufficiency Constipation Weight loss Facial palsy Peripheral axonal neuropathy Nephropathy Restrictive cardiomyopathy Polyneuropathy Gliosis Paraparesis Migraine Hypotension Neuronal loss in central nervous system Bilateral sensorineural hearing impairment Cardiomegaly Hemiparesis Hallucinations Vasculitis Abnormal autonomic nervous system physiology Increased CSF protein Abnormality of the vertebral column Multiple myeloma Decreased serum creatinine Intermittent claudication Ectopic ossification Arterial calcification Arterial occlusion Generalized arterial calcification Coronary artery calcification Periarticular calcification Abnormal vascular morphology Abdominal pain Arterial tortuosity Myalgia Erythema Pruritus Nausea and vomiting Dehydration Conjunctivitis Urticaria Polydipsia Abnormality of cardiovascular system physiology Gangrene Stroke-like episode Cardiac amyloidosis Constrictive median neuropathy Myelopathy Abnormal renal physiology Sensory ataxia Urinary retention Psychomotor deterioration Orthostatic hypotension due to autonomic dysfunction Vitreous floaters Amyloid deposition in the vitreous humor Abnormal joint morphology Abnormality of the foot Distal amyotrophy Sensory impairment Onion bulb formation Upper limb muscle weakness Axonal regeneration Diabetes mellitus Type II diabetes mellitus Vomiting Diarrhea Limitation of joint mobility Cardiomyopathy Hyperactive deep tendon reflexes Confusion Abnormal cerebellum morphology Involuntary movements Dysphonia Spastic diplegia Gaze-evoked nystagmus Resting tremor Upper motor neuron dysfunction Abnormal pyramidal sign Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Abnormality of movement Irritability Global developmental delay Impaired distal proprioception Limb muscle weakness Lower limb muscle weakness Lower limb spasticity Spastic gait Urinary urgency Progressive spastic paraplegia Impaired distal vibration sensation Demyelinating motor neuropathy Hyperlordosis Demyelinating sensory neuropathy Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Hypertonia Behavioral abnormality Dystonia Encephalopathy Difficulty walking Fixed facial expression Short stature Hydrocephalus Seborrheic dermatitis Osteomyelitis Aseptic necrosis Joint swelling Growth hormone excess Neoplasm of the lung Abnormal hair pattern Abnormal cortical bone morphology Peptic ulcer Genu varum Abnormal hair quantity Eczematoid dermatitis Abnormality of bone marrow cell morphology Cutis gyrata of scalp Clubbing of toes Seizures Visual impairment Dysarthria Acne Neoplasm of the skin Paralysis Osteoporosis Decreased nerve conduction velocity Hand muscle atrophy Ptosis Anemia Hepatomegaly Edema Splenomegaly Coarse facial features Osteolysis Small hand Palmoplantar keratoderma Gastrointestinal hemorrhage Thickened skin Abnormality of epiphysis morphology Bone pain Gynecomastia Abnormality of the fingernails Dysesthesia



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