Peripheral neuropathy, and Dyspnea

Diseases related with Peripheral neuropathy and Dyspnea

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Dyspnea that can help you solving undiagnosed cases.


Top matches:

Low match EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1


Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). Genetic Heterogeneity of Familial Episodic Pain SyndromeSee also FEPS2 (OMIM ), caused by mutation in the SCN10A gene (OMIM ) on chromosome 3p22, and FEPS3 (OMIM ), caused by mutation in the SCN11A gene (OMIM ) on chromosome 3p22.

Related symptoms:

  • Pain
  • Fatigue
  • Respiratory distress
  • Hyperhidrosis
  • Pallor


SOURCES: OMIM MENDELIAN

More info about EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2R


Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

Low match HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS


Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii|dsn|hmsn3|dss|dejerine-sottas syndrome|cmt3|charcot-marie-tooth disease, type 3|dejerine-sottas neuropathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

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Other less relevant matches:

Low match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Low match MYOTONIA FLUCTUANS


Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

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


Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

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

Low match SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY


Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY Is also known as mitochondrial encephalomyopathy due to coxpd6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|encephalomyopathy, mitochondrial, x-linked

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

Low match SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

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


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Dyspnea

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Respiratory distress Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Dyspnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Peripheral axonal neuropathy Hammertoe Polyneuropathy Motor delay Pes cavus Paralysis Global developmental delay Hyporeflexia Respiratory insufficiency Distal sensory impairment Distal amyotrophy Decreased motor nerve conduction velocity Distal muscle weakness

Rare Symptoms - Less than 30% cases


Split hand Generalized muscle weakness Sensory impairment Foot dorsiflexor weakness Lower limb muscle weakness Abnormality of the foot Fasciculations Pain Steppage gait Severe muscular hypotonia Elevated serum creatine phosphokinase Ulnar claw Myopathy Dysphagia Increased variability in muscle fiber diameter Paresthesia Pulmonary hypoplasia Increased connective tissue Hearing impairment Gait disturbance Broad-based gait Scoliosis Talipes equinovarus Decreased number of peripheral myelinated nerve fibers Difficulty walking Muscular hypotonia Amyotrophic lateral sclerosis Moderate global developmental delay Tongue fasciculations Abnormal joint morphology Increased CSF lactate Respiratory insufficiency due to muscle weakness Central hypotonia Impaired vibration sensation in the lower limbs Hypokinesia Sensory axonal neuropathy Myositis Ragged-red muscle fibers Absent Achilles reflex Irritability Gait imbalance Increased serum pyruvate Abnormality of peripheral nerve conduction Poor fine motor coordination Involuntary movements Bradykinesia Abnormal nerve conduction velocity Increased serum lactate Tetraplegia Abnormality of hand joint mobility Seizures Delayed speech and language development Feeding difficulties in infancy Developmental regression Abnormality of the basal ganglia Growth delay Abnormal corpus striatum morphology High palate Oligohydramnios Renal hypoplasia Renal dysplasia Progressive muscle weakness Elevated serum creatinine Abnormal renal corticomedullary differentiation Ptosis Hyperkeratosis Small for gestational age Gait ataxia Facial palsy Abnormality of the hand Congenital contracture Impaired vibratory sensation Nemaline bodies Distal lower limb amyotrophy Peripheral demyelination Postnatal growth retardation Patent ductus arteriosus Neonatal respiratory distress Respiratory failure Polyhydramnios Arthrogryposis multiplex congenita Premature birth Decreased fetal movement Patent foramen ovale Spinal muscular atrophy Axonal loss Intrauterine growth retardation Abnormal cortical gyration Fractures of the long bones Multiple prenatal fractures Scapular winging Feeding difficulties Visual impairment Hypertension Toe walking Ophthalmoparesis Sensorimotor neuropathy Cardiomyopathy Increased CSF protein Demyelinating peripheral neuropathy Miosis Sensory ataxia Segmental peripheral demyelination/remyelination Hypertrophic nerve changes Diarrhea Incoordination Congestive heart failure Arrhythmia Constipation Abnormal cardiac septum morphology Atrial fibrillation Exercise intolerance EMG: myopathic abnormalities Onion bulb formation Infantile muscular hypotonia Pericardial effusion Knee flexion contracture Hyperhidrosis Pallor Tachycardia Cyanosis Hyperalgesia Muscular hypotonia of the trunk Inability to walk Decreased muscle mass Kyphoscoliosis Axonal degeneration Tracheomalacia Vocal cord paralysis Abnormal cranial nerve morphology Slender build Ataxia Nystagmus Impotence Orthostatic hypotension Frequent falls Dementia Hyperkalemia Blepharospasm Dysesthesia Muscular edema Dysarthria Behavioral abnormality Arthralgia Myotonia Proximal muscle weakness Abnormality of the nervous system Hyperlordosis Cough Limb muscle weakness Unsteady gait Falls Skeletal muscle hypertrophy Fatigue Exertional dyspnea Peripheral edema Heart block Edema of the lower limbs Right ventricular hypertrophy Reduced ejection fraction Abnormal echocardiogram Atrial arrhythmia Biventricular hypertrophy Cardiac amyloidosis EMG abnormality Abnormal ventricular filling Orthostatic syncope Spasticity Hypertonia Myalgia Muscle cramps Chest pain Hypotrophy of the small hand muscles



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