Myopathy, and Leukoencephalopathy

Diseases related with Myopathy and Leukoencephalopathy

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6


MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

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

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Low match METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM


The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Low match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Low match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match CADASIL


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Top 5 symptoms//phenotypes associated to Myopathy and Leukoencephalopathy

Symptoms // Phenotype % cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Global developmental delay Dysarthria Proximal muscle weakness Intellectual disability Elevated serum creatine phosphokinase Generalized hypotonia Confusion Facial palsy Dementia Spasticity Diffuse leukoencephalopathy Muscular dystrophy Encephalopathy Tetraplegia Dysphagia Pain Ventriculomegaly Limb muscle weakness Optic atrophy Progressive external ophthalmoplegia Ragged-red muscle fibers External ophthalmoplegia Mitochondrial myopathy Microcephaly Generalized muscle weakness Visual impairment Gastrointestinal dysmotility Areflexia Acidosis Hyperreflexia Increased CSF protein Cataract Ptosis Peripheral demyelination Urinary incontinence Mental deterioration Tremor Gait ataxia Cardiomyopathy Developmental regression Distal muscle weakness Dilated cardiomyopathy Hyporeflexia Unsteady gait Spastic tetraparesis Leukodystrophy Spastic tetraplegia Brain atrophy Abdominal distention Cerebral atrophy Growth delay Hypoglycemia Short stature Babinski sign Respiratory failure Ophthalmoplegia Motor delay Lower limb muscle weakness Abnormality of the periventricular white matter Nystagmus

Rare Symptoms - Less than 30% cases


Malabsorption Cerebellar hypoplasia Dystonia Behavioral abnormality Gait disturbance Macroglossia Hypogonadism Skeletal myopathy Open mouth Cerebral cortical atrophy Ophthalmoparesis EMG: myopathic abnormalities Limb ataxia Increased variability in muscle fiber diameter Memory impairment Loss of speech Cerebellar atrophy Skeletal muscle atrophy Rigidity Depressivity Abnormality of visual evoked potentials Bulbar palsy Bradykinesia Emotional lability Personality changes Apathy Stroke Shock Strabismus Stroke-like episode Muscular hypotonia Flexion contracture Hypertension Polyneuropathy Neurodegeneration Pallor Abnormality of mitochondrial metabolism Myopia Coma Abnormal electroretinogram Sensorineural hearing impairment Paresthesia Recurrent infections Cytochrome C oxidase-negative muscle fibers Delayed speech and language development Gastroesophageal reflux Visual loss Multiple mitochondrial DNA deletions Failure to thrive Subsarcolemmal accumulations of abnormally shaped mitochondria Sensory ataxic neuropathy Slender build Abnormality of eye movement Distal sensory impairment Vomiting Lactic acidosis Malnutrition Cachexia Congenital muscular dystrophy Tetraparesis Hypoplasia of the brainstem Constipation Skeletal muscle hypertrophy Abdominal pain Nausea Peripheral axonal neuropathy Metabolic acidosis Hypoplasia of the corpus callosum Fatigue Parkinsonism Mitral valve prolapse Decreased sensory nerve conduction velocity Abnormal cell morphology Intestinal perforation Atrophic muscularis propria Macrovesicular hepatic steatosis Abnormality of the extraocular muscles Small intestinal dysmotility Pes cavus Hypointensity of cerebral white matter on MRI Anxiety Paraplegia Muscle stiffness Spastic paraplegia Neutropenia Progressive cerebellar ataxia Aciduria Febrile seizures Abnormality of movement Intermittent diarrhea Progressive visual loss Choreoathetosis Paraparesis Spastic paraparesis Athetosis Short attention span Abnormality of the basal ganglia Hyperalaninemia Severe global developmental delay 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Intestinal pseudo-obstruction Decreased number of large peripheral myelinated nerve fibers Testicular dysgenesis Hyperchloremic acidosis Hyperactivity Progressive forgetfulness Abnormality of the mitochondrion Gastroparesis Demyelinating peripheral neuropathy Hepatomegaly Mitral regurgitation Impaired distal vibration sensation Exercise intolerance Truncal ataxia Scotoma Aphasia Cerebral hemorrhage Hemiplegia Cranial nerve paralysis Atherosclerosis Recurrent pneumonia Hemiparesis Impaired pain sensation Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Abnormality of the skin Migraine Sensory neuropathy Inability to walk Amyloidosis Optic neuropathy Dysmetria Amaurosis fugax Scintillating scotoma Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Subcortical dementia Retinal arteriolar tortuosity Focal sensory seizure Subcutaneous hemorrhage Transient ischemic attack Mania Perseveration Pseudobulbar paralysis Abnormality of nervous system morphology Migraine with aura Cerebral ischemia Varicose veins Vertigo Generalized tonic-clonic seizures Scapular winging Abnormal retinal morphology Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Hemianopia Shuffling gait Action tremor Dyschromatopsia Progressive proximal muscle weakness Generalized amyotrophy Muscle fiber atrophy Mildly elevated creatine phosphokinase Sensory axonal neuropathy Mask-like facies Steppage gait Postural tremor Dysphonia Respiratory insufficiency due to muscle weakness Hand muscle weakness Positive Romberg sign Attention deficit hyperactivity disorder Impaired distal proprioception Abnormality of the eye EEG abnormality Headache Hypertonia Fever Homonymous hemianopia Progressive ophthalmoplegia Stooped posture Increased muscle fatiguability Optic neuritis Abnormality of the gastrointestinal tract Muscle fiber necrosis Abnormality of the cerebrospinal fluid Abnormal nerve conduction velocity Neuritis Weak voice Absent Achilles reflex Congestive heart failure Abnormality of the vasculature Dilatation Severe muscular hypotonia Agitation Opisthotonus Episodic fever Pendular nystagmus Severe lactic acidosis Primitive reflex Psychomotor deterioration Frontoparietal polymicrogyria Progressive leukoencephalopathy Scoliosis Cryptorchidism Respiratory insufficiency Intellectual disability, severe Abnormal heart morphology Polymicrogyria Micropenis Neonatal hypotonia Hyperlordosis Retinopathy Hip dislocation Pigmentary retinopathy Ventricular hypertrophy Cerebellar vermis hypoplasia Left ventricular hypertrophy Calf muscle hypertrophy Left ventricular systolic dysfunction Reduced visual acuity Abnormality of the nervous system Feeding difficulties in infancy Wide intermamillary distance Arthrogryposis multiplex congenita Optic disc pallor Low-set ears Waddling gait Intellectual disability, profound Pachygyria Joint contracture of the hand Horizontal nystagmus Elbow flexion contracture Gowers sign Abnormality of neuronal migration Myopathic facies Lower limb hyperreflexia Achilles tendon contracture Decreased light- and dark-adapted electroretinogram amplitude Cerebellar cyst Mild myopia Talipes equinovarus Abnormal pyramidal sign Intrauterine growth retardation Irritability Muscular hypotonia of the trunk Retrognathia Polyhydramnios Edema Respiratory distress Feeding difficulties Hepatic fibrosis High palate Hypomagnesemia Celiac disease Bilateral talipes equinovarus Hypokalemia Decreased liver function Chorea Bilateral sensorineural hearing impairment Poor appetite Elevated hepatic transaminase Oligospermia Male hypogonadism Elevated circulating follicle stimulating hormone level IgM deficiency Neck flexor weakness Arteriosclerosis Hypersomnia Type 2 muscle fiber atrophy Frontal balding Insulin insensitivity Iridescent posterior subcapsular cataract Anemia Diarrhea Weight loss Cirrhosis Neurofibrillary tangles Abnormality of the hand Scleroderma Axonal degeneration Difficulty climbing stairs Decreased muscle mass Decreased motor nerve conduction velocity Bilateral ptosis Polycystic ovaries Distal amyotrophy Easy fatigability Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Foot dorsiflexor weakness Sensorimotor neuropathy Chronic diarrhea IgG deficiency Epiphora Clumsiness EMG: chronic denervation signs Aganglionic megacolon Frequent falls Hallucinations Schizophrenia Decreased nerve conduction velocity Toe walking Onion bulb formation Delusions Progressive gait ataxia EMG: neuropathic changes Genu recurvatum Vegetative state Progressive peripheral neuropathy Cholecystitis Decerebrate rigidity Myotonia Tachycardia Hypercholesterolemia Spontaneous abortion Progressive muscle weakness Palpitations Decreased antibody level in blood Sudden cardiac death Infertility Abnormal social behavior Myalgia Diabetes mellitus Arrhythmia Gallbladder dysfunction Abnormality of proteoglycan metabolism Punctate periventricular T2 hyperintense foci Subdural hemorrhage



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