Myopathy, and Sensory neuropathy

Diseases related with Myopathy and Sensory neuropathy

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


Top matches:

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H


Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

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Other less relevant matches:

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 HYPERKALEMIC PERIODIC PARALYSIS


Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.

HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria|hypp|familial hyperkalemic periodic paralysis|hyperkpp|gamstorp disease|familial hyperpp|gamstorp episodic adynamy|hyperpp|hyperkalemic pp|primary hyperpp|primary hyperkalemic periodic paralysis

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

Low match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Top 5 symptoms//phenotypes associated to Myopathy and Sensory neuropathy

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Paresthesia Uncommon - Between 30% and 50% cases
Ragged-red muscle fibers Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Sensory neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myalgia Gait disturbance Hyporeflexia Generalized hypotonia EMG: myopathic abnormalities Exercise intolerance EMG abnormality Spasticity Arrhythmia Ataxia Proximal muscle weakness Mitochondrial myopathy

Rare Symptoms - Less than 30% cases


Growth delay Ophthalmoparesis Facial palsy Seizures Intellectual disability Gastrointestinal dysmotility Hypertonia Malabsorption Dyspnea Chest pain Myotonia Global developmental delay Skeletal muscle hypertrophy Hyperkalemia Dysesthesia Hypokalemia Short stature Cataract Hyperreflexia Exertional dyspnea Irritability Muscular hypotonia Unsteady gait Hearing impairment Encephalopathy Difficulty walking Waddling gait Peripheral axonal neuropathy Cardiomyopathy Babinski sign Increased variability in muscle fiber diameter Congestive heart failure Constipation Delayed myelination Increased serum lactate Blue sclerae Glucose intolerance Lower limb muscle weakness Orthostatic hypotension Abnormal activity of mitochondrial respiratory chain Distal muscle weakness Triangular face Pes cavus Sensorineural hearing impairment Abnormality of the dentition Alopecia Generalized tonic-clonic seizures Nephropathy Brain atrophy Lactic acidosis Cirrhosis Loss of facial expression Aphasia Blurred vision Visual field defect Muscle fibrillation Increased CSF protein Delusions Visual hallucinations Supranuclear gaze palsy Normal pressure hydrocephalus Extrapyramidal muscular rigidity Cerebral calcification Hirano bodies Frequent falls Sensory impairment Failure to thrive Distal sensory impairment Feeding difficulties Narrow mouth Acidosis Falls Poor speech Delayed eruption of teeth Abnormality of dental enamel Hypocalcemia Hepatic fibrosis Ventriculomegaly Abdominal pain Respiratory failure Hypoglycemia Abnormality of the cerebral white matter Ophthalmoplegia Abdominal distention Generalized muscle weakness Decreased liver function Low-set ears External ophthalmoplegia Leukoencephalopathy Cachexia Bilateral talipes equinovarus Malnutrition Celiac disease Progressive external ophthalmoplegia Hypomagnesemia Slender build Talipes equinovarus Weakness of orbicularis oculi muscle Apathy Motor delay Brittle hair Hyperparathyroidism Basal ganglia calcification Hypoparathyroidism Hyperphosphatemia Tetany Abnormality of calcium-phosphate metabolism Congenital hypoparathyroidism Decreased circulating parathyroid hormone level Dysarthria Decreased activity of mitochondrial complex IV Fatigue Diabetes mellitus Limb muscle weakness Type II diabetes mellitus Progressive muscle weakness Type I diabetes mellitus Proximal amyotrophy Peripheral arterial stenosis Personality changes Cerebral visual impairment Language impairment Calf muscle pseudohypertrophy Centrally nucleated skeletal muscle fibers Progressive proximal muscle weakness Shoulder girdle muscle weakness Exercise-induced myalgia Neck flexor weakness Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Pelvic girdle muscle atrophy Mask-like facies Quadriceps muscle weakness Abnormal cardiac septum morphology Dysphagia Muscle cramps Diarrhea Upper limb amyotrophy Lower limb amyotrophy Muscle fiber splitting Blepharospasm Calf muscle hypertrophy Keratitis Muscular edema Abnormal ventricular filling Edema of the lower limbs Right ventricular hypertrophy Reduced ejection fraction Abnormal echocardiogram Atrial arrhythmia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Orthostatic syncope Congenital muscular dystrophy Pain Areflexia Pericardial effusion Impotence Muscular dystrophy Tall stature Atrial fibrillation Scapular winging Gowers sign Upper limb muscle weakness Flexion contracture Truncal ataxia Confusion Gait ataxia Reduced visual acuity Rigidity Anxiety Mental deterioration Pyloric stenosis Paralysis Abnormal pyramidal sign Sensorimotor neuropathy Dementia Neurodegeneration Abnormal cerebellum morphology Gliosis Memory impairment Neuronal loss in central nervous system Hemiparesis Choreoathetosis Hallucinations Heart block Myoclonus Impaired vibratory sensation Skeletal muscle atrophy Episodic flaccid weakness Respiratory insufficiency Feeding difficulties in infancy Fasciculations Reduced tendon reflexes Cerebral palsy EMG: neuropathic changes Hyponatremia Bowel incontinence Malignant hyperthermia Periodic hyperkalemic paralysis Depressivity Rimmed vacuoles Visual impairment Sensory axonal neuropathy Tremor Hydrocephalus Blindness Behavioral abnormality Headache Recurrent infections Sensory ataxic neuropathy



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