Cardiomyopathy, and Polyneuropathy

Diseases related with Cardiomyopathy and Polyneuropathy

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


Top matches:

Medium match LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE


Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.

LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE Is also known as zasp-related myofibrillar myopathy

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Irritability


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE

Medium match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Medium match DISTAL MYOTILINOPATHY


Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

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Other less relevant matches:

Medium match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Medium match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Medium match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Medium match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Medium match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Medium match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Polyneuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Polyneuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Limb muscle weakness Pes cavus Blindness Seizures Respiratory insufficiency Cataract Flexion contracture Distal sensory impairment Myofibrillar myopathy Myopathy Elevated serum creatine phosphokinase Sensory impairment

Rare Symptoms - Less than 30% cases


Restrictive cardiomyopathy Areflexia Proximal muscle weakness Congestive heart failure Steppage gait Distal muscle weakness Muscular dystrophy Lower limb muscle weakness Distal amyotrophy Arrhythmia Rod-cone dystrophy Pain Difficulty walking Paresthesia Scoliosis Nyctalopia Cerebellar atrophy Ichthyosis Gait ataxia Neonatal hypotonia Hypertrophic cardiomyopathy Elevated levels of phytanic acid Mental deterioration Anosmia Sensorimotor neuropathy Cognitive impairment Dysphagia Motor polyneuropathy Autophagic vacuoles Glaucoma Proteinuria Sensorineural hearing impairment Paralysis Hyporeflexia of lower limbs Muscle fiber splitting Foot dorsiflexor weakness Hypotension Nephrotic syndrome Progressive distal muscle weakness Ptosis Hammertoe Intellectual disability EMG: myopathic abnormalities Generalized amyloid deposition Orthostatic hypotension Amyloidosis Progressive muscle weakness Global developmental delay Palpitations Hypertonia Abnormal pupil morphology Distal lower limb amyotrophy Calcific stippling Short 5th metacarpal Ventriculomegaly Polyneuritis Hypoplasia of the corpus callosum Spasticity Gait disturbance Progressive visual loss Spinal deformities Myelin outfoldings Growth delay Abnormality of metabolism/homeostasis Cold-induced muscle cramps Trophic changes related to pain Chronic sensorineural polyneuropathy Visual loss Tonic pupil Hypertrophic nerve changes Rhizomelia Autism Skeletal dysplasia Ulnar claw Autistic behavior Retinopathy Limb tremor Neuritis Congenital cataract Behavioral abnormality EMG abnormality Babinski sign Renal cyst Abnormal upper motor neuron morphology Erectile abnormalities Decreased urine output Abnormality of central motor function Decreased/absent ankle reflexes Lafora bodies Cervical spinal cord atrophy Nystagmus Delayed speech and language development Wide nasal bridge Retinal degeneration Pigmentary retinopathy Psychomotor deterioration Cardiomegaly Leukodystrophy Progressive hearing impairment Bilateral ptosis Epiphyseal dysplasia Epiphyseal stippling Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Short fourth metatarsal Progressive spastic paraparesis CNS demyelination Dementia Hemiparesis Cerebral cortical atrophy Abnormal pyramidal sign Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Peripheral axonal neuropathy Urinary incontinence Limitation of joint mobility Bradykinesia Abnormality of extrapyramidal motor function Tetraparesis Lower limb spasticity Neurogenic bladder Decreased liver function Skin ulcer Heart block Reduced tendon reflexes Amyotrophic lateral sclerosis Impotence Urinary urgency Abnormality of the periventricular white matter Urinary bladder sphincter dysfunction Slow saccadic eye movements Hypomimic face Corpus callosum atrophy Upper limb undergrowth Urticaria Onion bulb formation EEG abnormality Achilles tendon contracture Muscle fiber cytoplasmatic inclusion bodies Generalized hypotonia Feeding difficulties Intrauterine growth retardation Respiratory distress Encephalopathy Patent ductus arteriosus Cerebellar hypoplasia Acidosis Lactic acidosis Limb-girdle muscular dystrophy Increased serum lactate Epileptic encephalopathy Neuronal loss in central nervous system Bradycardia Abnormality of mitochondrial metabolism Neonatal respiratory distress Hypoplastic left heart Motor deterioration Astrocytosis Decreased activity of mitochondrial respiratory chain Centrally nucleated skeletal muscle fibers Muscle stiffness Facial palsy Corneal dystrophy Irritability Mildly elevated creatine phosphokinase Progressive proximal muscle weakness EMG: neuropathic changes Renal insufficiency Corneal opacity Poor speech Everted lower lip vermilion Abnormal autonomic nervous system physiology Cutis laxa Bulbar palsy Generalized muscle weakness Abnormality of abdomen morphology Bulbar signs Facial paralysis Mild proteinuria Lattice corneal dystrophy Cardiac amyloidosis Bilateral facial palsy Dysarthria Pneumonia Myalgia Abnormality of the skeletal system Mitral regurgitation Decreased number of peripheral myelinated nerve fibers Diarrhea Cholestasis Optic neuropathy Papilledema Drusen Albuminuria Renal amyloidosis Skeletal muscle atrophy Optic atrophy Tremor Vomiting Diabetes mellitus Nephropathy Kyphoscoliosis Abnormality of the foot Nausea Sensory neuropathy Peripheral demyelination Split hand Chronic diarrhea Decreased nerve conduction velocity Decreased motor nerve conduction velocity Axonal degeneration Hematuria Skin rash Abnormal lung morphology Thoracic scoliosis Knee flexion contracture Scapular winging Easy fatigability Nasal speech Impaired vibratory sensation Toe walking Generalized amyotrophy Restrictive ventilatory defect Spinal rigidity Axonal loss Demyelinating peripheral neuropathy Hepatosplenomegaly Skeletal myopathy Diaphragmatic paralysis Neoplasm Hypertension Hepatomegaly Fever Edema Splenomegaly Abdominal pain Weight loss Hyperoxaluria



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