Autoimmunity, and Pes cavus

Diseases related with Autoimmunity and Pes cavus

In the following list you will find some of the most common rare diseases related to Autoimmunity and Pes cavus that can help you solving undiagnosed cases.


Top matches:

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY


Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Related symptoms:

  • Peripheral neuropathy
  • Areflexia
  • Pes cavus
  • Sensory neuropathy
  • Peripheral demyelination


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Low match ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS


ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Is also known as hid syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Alopecia
  • Pes cavus
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

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


Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

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

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F


Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F Is also known as hsn if

Related symptoms:

  • Pain
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

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


Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B Is also known as charcot-marie-tooth disease, autosomal dominant, type 2b|charcot-marie-tooth neuropathy, type 2b|cmt2b|hmsn iib|hmsn2b|hereditary motor and sensory neuropathy iib

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Pes cavus

Symptoms // Phenotype % cases
Sensory neuropathy Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensory impairment Sensory axonal neuropathy Peripheral axonal neuropathy Distal amyotrophy Hyporeflexia Muscle weakness Sensorineural hearing impairment Gait disturbance Peripheral demyelination Hearing impairment Distal muscle weakness Nystagmus Diabetes mellitus Pain

Rare Symptoms - Less than 30% cases


Falls Split hand Arthropathy Frequent falls Decreased nerve conduction velocity Steppage gait Hammertoe Foot dorsiflexor weakness Onion bulb formation Dysphagia Scoliosis Hyperkeratosis Osteomyelitis Bulbar palsy Pes planus Kyphoscoliosis Seizures Proximal muscle weakness Cognitive impairment Tremor Ataxia Fever Hyperreflexia Decreased number of peripheral myelinated nerve fibers Recurrent respiratory infections Spasticity Feeding difficulties Axonal degeneration Spinal muscular atrophy Spinal deformities Respiratory arrest Distal lower limb muscle weakness Muscle fiber atrophy Motor polyneuropathy EEG with polyspike wave complexes Limb-girdle muscle weakness Central sleep apnea Apneic episodes precipitated by illness, fatigue, stress Staring gaze Sudden episodic apnea Nasal regurgitation Central hypotonia Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Acetylcholine receptor antibody positivity Axonal degeneration/regeneration Obstructive sleep apnea Spinal rigidity Neck muscle weakness Decreased fetal movement Foot osteomyelitis Peripheral axonal atrophy Joint laxity Pectus carinatum Arthrogryposis multiplex congenita Ophthalmoplegia Long face Foot pain Generalized muscle weakness Esotropia Waddling gait Cyanosis Diplopia Fatigable weakness Congenital hip dislocation Microretrognathia EMG: myopathic abnormalities Poor head control Easy fatigability Dysphonia Poor suck Nasal speech Stridor Toe walking Spastic paraplegia Weak cry Nail dystrophy Paresthesia Paraplegia Osteolytic defects of the phalanges of the hand Proximal amyotrophy Glomerulosclerosis Glomerulonephritis Nephritis Hand tremor Abnormality of lipid metabolism Focal segmental glomerulosclerosis Axonal loss Distal lower limb amyotrophy Mild proteinuria Distal upper limb amyotrophy Hallux valgus Hyporeflexia of lower limbs Bulbar signs Elevated serum creatine phosphokinase Babinski sign Pneumonia Polyneuropathy Muscle cramps Mildly elevated creatine phosphokinase Tetraplegia Gliosis Neuronal loss in central nervous system Amyotrophic lateral sclerosis Myotonia Fasciculations Stage 5 chronic kidney disease Proteinuria Absent Achilles reflex Scarring Hyperlipidemia Dystrophic toenail Decreased motor nerve conduction velocity Nail dysplasia Cerebral palsy Reduced tendon reflexes Cerebellar atrophy Atrophy of the spinal cord Distal sensory loss of all modalities Autoamputation Alopecia Degeneration of anterior horn cells Papule Cobblestone-like hyperkeratosis Hypotrichosis Areflexia of lower limbs Ichthyosis Palmoplantar keratoderma Difficulty walking Sparse eyelashes Recurrent skin infections Erythroderma Keratitis Squamous cell carcinoma Absent eyelashes Scarring alopecia of scalp Punctate keratitis Sparse and thin eyebrow Ankylosis of feet small joints Gastroesophageal reflux Episodic fever EMG abnormality Paraparesis Spastic paraparesis Spastic tetraparesis CNS hypomyelination Hemiplegia Postural tremor Hemiplegia/hemiparesis Global brain atrophy Opisthotonus Progressive spasticity Ankle clonus Hyperactive deep tendon reflexes Autoimmune thrombocytopenia Sensorimotor neuropathy Increased CSF protein Diffuse cerebral atrophy Motor deterioration Abnormality of the thumb Demyelinating peripheral neuropathy Cloverleaf skull Aplasia/Hypoplasia of the abdominal wall musculature CNS demyelination Abnormal nerve conduction velocity Decerebrate rigidity Unexplained fevers Abnormal flash visual evoked potentials Short stature Hypertelorism Horizontal nystagmus Leukodystrophy Cataract Reduced visual acuity Generalized hypotonia Failure to thrive Muscular hypotonia Visual impairment Optic atrophy Hydrocephalus Blindness Vomiting Hypertonia Behavioral abnormality Dilatation Abnormality of metabolism/homeostasis Visual loss Weight loss EEG abnormality Clonus Rigidity Muscular hypotonia of the trunk Mental deterioration Developmental regression Irritability Pallor Protruding ear Abnormality of the cerebral white matter Neurodegeneration Generalized myoclonic seizures Brain atrophy Optic disc pallor Tetraparesis Progressive muscle weakness Micrognathia Flexion contracture Polyhydramnios Metatarsal osteolysis Vertebral compression fractures Generalized osteoporosis Delayed closure of the anterior fontanelle Wrist flexion contracture Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Carpal osteolysis Ankylosis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Widened metacarpal shaft Global developmental delay Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Intellectual disability Ptosis Low-set ears High palate Motor delay Antinuclear antibody positivity Ankle contracture Brachydactyly Delayed eruption of teeth Frontal bossing Kyphosis Osteoporosis Brachycephaly Proptosis Hypothyroidism Osteopenia Coarse facial features Arthralgia Arthritis Corneal opacity Bulbous nose Hirsutism Small hand Hypoplasia of the maxilla Hip contracture Interphalangeal joint contracture of finger Hypertrichosis Subcutaneous nodule Decreased body weight Thickened skin Gingival overgrowth Knee flexion contracture Osteolysis Metaphyseal widening Abnormality of the thorax Hypermelanotic macule Abnormality of the ear Abnormality of the thyroid gland Narrow nasal bridge Autoamputation of foot



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