Fever, and Difficulty walking

Diseases related with Fever and Difficulty walking

In the following list you will find some of the most common rare diseases related to Fever and Difficulty walking that can help you solving undiagnosed cases.

Top matches:

High match BRODY MYOPATHY

Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).

Related symptoms:

  • Pain
  • Spasticity
  • Flexion contracture
  • Fever
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BRODY MYOPATHY

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Other less relevant matches:

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Top 5 symptoms//phenotypes associated to Fever and Difficulty walking

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Dystonia Intellectual disability Tremor Hearing impairment Scoliosis Paraparesis Nystagmus Cognitive impairment Hyperreflexia Babinski sign Muscle weakness Gait disturbance Choreoathetosis Respiratory failure Pneumonia Dysphagia Respiratory insufficiency Skeletal muscle atrophy Motor delay Muscular hypotonia Pain Failure to thrive Cerebellar atrophy Myopathy Areflexia Peripheral neuropathy Flexion contracture

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Mental deterioration Falls Dysmetria Pseudobulbar paralysis Muscular hypotonia of the trunk Absent speech Involuntary movements Spastic paraparesis Microcephaly Fatigue Abnormality of extrapyramidal motor function Toe walking Frequent falls Intellectual disability, mild Lower limb hyperreflexia Congestive heart failure Conductive hearing impairment Intention tremor Encephalopathy Peripheral demyelination Distal sensory impairment Abnormality of the foot Respiratory insufficiency due to muscle weakness Limb muscle weakness Aspiration Kyphosis Myalgia Hypertonia Rigidity Urinary incontinence Elevated serum creatine phosphokinase Motor deterioration Parkinsonism with favorable response to dopaminergic medication Respiratory distress Myoclonus Recurrent respiratory infections Respiratory tract infection Generalized muscle weakness Gait ataxia Chorea Sensory neuropathy Abnormality of eye movement Hypotrichosis Psychotic episodes Glaucoma Alopecia Clinodactyly Abnormality of the skeletal system Anemia Clinodactyly of the 5th finger Limitation of joint mobility Slow saccadic eye movements Myocardial infarction Subcutaneous nodule Short thumb Abnormality of finger Blepharospasm Abnormal vertebral morphology Pulmonary embolism Finger clinodactyly Widely spaced teeth Sarcoma Hypokinesia Bowel incontinence Low-set ears Focal clonic seizures Neoplasm Back pain Oculogyric crisis Hyperreflexia in upper limbs Vertical supranuclear gaze palsy Anarthria Vacuolated lymphocytes Leg muscle stiffness Stooped posture Abnormality of higher mental function Cerebellar cortical atrophy Cogwheel rigidity Upper motor neuron dysfunction Difficulty in tongue movements Upgaze palsy Hyposmia Hypomimic face Supranuclear gaze palsy Hyperactive patellar reflex Eyelid apraxia Short attention span Diffuse cerebral atrophy Lingual dystonia Generalized tonic-clonic seizures Hypodontia Visual hallucinations Epileptic encephalopathy Cyanosis Status epilepticus Multifocal seizures Dilatation of the cerebral artery Broad femoral neck Metaphyseal widening Proximal muscle weakness Abnormality of the cardiovascular system Macroglossia Muscular dystrophy Stroke Paralysis Hypertrophic cardiomyopathy Increased muscle fatiguability Type II diabetes mellitus Abdominal wall muscle weakness EEG abnormality Hypoglycemia Osteopenia Shortened PR interval Gastroesophageal reflux Acidosis Cardiomegaly Ventricular hypertrophy Arrhythmia Emphysema Progressive proximal muscle weakness Wolff-Parkinson-White syndrome Stroke-like episode Pelvic girdle muscle weakness Exertional dyspnea Dysphasia Nasal speech Progressive muscle weakness Atrioventricular block Delayed gross motor development Atherosclerosis Macular degeneration Diaphragmatic paralysis Scapular winging EMG abnormality Dyspnea Abnormality of metabolism/homeostasis Hallux valgus Short hallux Soft tissue sarcoma Low-grade fever Overbite Stiff neck Difficulty running Short 1st metacarpal Myositis Osteochondroma Broad neck Exostoses Ankylosis Alopecia of scalp Basal ganglia calcification Hamartoma Spinal rigidity Synostosis of joints Fibrosarcoma Dilatation Aplasia/Hypoplasia of the phalanges of the hallux Headache Splenomegaly Cardiomyopathy Hepatomegaly Feeding difficulties Ptosis Growth delay Abnormality of the first metatarsal bone Ectopic ossification Progressive cervical vertebral spine fusion Mask-like facies Abnormal CNS myelination Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Global brain atrophy Excessive daytime somnolence Akinesia Cerebellar vermis atrophy Optic atrophy Hyperactivity Attention deficit hyperactivity disorder Poor speech Unsteady gait Polyneuropathy Tetraplegia Specific learning disability Spastic tetraplegia Lower limb spasticity Leukodystrophy CNS hypomyelination Oral-pharyngeal dysphagia Opisthotonus Rotary nystagmus Delayed speech and language development Cerebral hypomyelination Abnormal facial shape Talipes equinovarus Diarrhea Immunodeficiency Recurrent infections Thrombocytopenia Pectus excavatum Dry skin Lymphadenopathy Neutropenia Sepsis Ectodermal dysplasia Chronic diarrhea Visual impairment Short stature Encephalitis Apnea Muscle cramps Muscle stiffness Myotonia Myoglobinuria Syndactyly Progressive cerebellar ataxia Febrile seizures Cutaneous photosensitivity Clumsiness Absence seizures Atonic seizures Ventricular septal defect Atrial septal defect Hypothyroidism Abnormal cardiac septum morphology Thyroid dysgenesis Abnormality of movement Sleep disturbance Asthma Abnormal lung morphology Recurrent pneumonia Infantile muscular hypotonia Hyperkinesis Neonatal respiratory distress Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Increased thyroid-stimulating hormone level Compensated hypothyroidism Hypocalcemia Gowers sign Apathy Abnormality of the eye Hand tremor Distal lower limb amyotrophy Achilles tendon contracture Spinocerebellar tract degeneration Absent Achilles reflex Abnormality of peripheral nerve conduction Abnormal nerve conduction velocity Peripheral axonal degeneration Distal upper limb amyotrophy Motor aphasia Cerebral atrophy Dementia Cerebral cortical atrophy Aggressive behavior Abnormal pyramidal sign Hyperventilation Spastic paraplegia Lethargy Paraplegia Confusion Dyskinesia Neurodegeneration Postural instability Parkinsonism Brain atrophy Bradykinesia Psychosis Hallucinations Torticollis Anosmia Upper limb undergrowth Onion bulb formation Anhidrosis Lower limb muscle weakness Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Protracted diarrhea Hyporeflexia Pes cavus Abnormality of the nervous system Distal muscle weakness Abnormality of the cerebral white matter Peripheral axonal neuropathy Impaired pain sensation Language impairment Axonal loss Decreased number of peripheral myelinated nerve fibers Pathologic fracture Axonal degeneration Aphasia Decreased motor nerve conduction velocity Dysdiadochokinesis Distal amyotrophy Incoordination Cranial nerve paralysis Sensorimotor neuropathy Limb ataxia Tetraparesis Abnormal cerebellum morphology Firm muscles


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