Cardiomyopathy, and Tremor

Diseases related with Cardiomyopathy and Tremor

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


Top matches:

Low match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Low match ITPA-RELATED ENCEPHALOPATHY


Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ITPA-RELATED ENCEPHALOPATHY

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Other less relevant matches:

Low match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Low match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Low match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Tremor

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Dilated cardiomyopathy Generalized hypotonia Hearing impairment Leukoencephalopathy Optic atrophy Motor delay

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Pes cavus Feeding difficulties Intrauterine growth retardation Cerebral atrophy Encephalopathy Delayed myelination Limb tremor Gait disturbance Myopathy Elevated serum creatine phosphokinase Distal muscle weakness Hypertonia Ragged-red muscle fibers Mildly elevated creatine phosphokinase Dysarthria Hyperreflexia Nystagmus Spasticity Cerebellar atrophy Skeletal muscle atrophy Peripheral neuropathy Microcephaly Proximal muscle weakness Abnormality of the cerebral white matter Delayed speech and language development Orofacial dyskinesia Difficulty walking Resting tremor Involuntary movements Chorea Dyskinesia Growth delay Limb hypertonia Dysmetria Acidosis Hypoglycemia Rigidity Aggressive behavior Neurological speech impairment Myelin outfoldings Lactic acidosis Rod-cone dystrophy Tetraplegia Increased serum lactate Spastic tetraplegia Amblyopia Exotropia Athetosis Specific learning disability Insulin-resistant diabetes mellitus Abnormal posturing Centrally nucleated skeletal muscle fibers Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Difficulty running Progressive extrapyramidal muscular rigidity Central core regions in muscle fibers Visual impairment Ventriculomegaly Abnormality of extrapyramidal motor function Increased variability in muscle fiber diameter Hypertrophic nerve changes Stereotypy Brisk reflexes Ulnar claw Absent speech Thrombocytopenia Diffuse cerebral atrophy Generalized amyotrophy Decreased number of peripheral myelinated nerve fibers Distal amyotrophy Distal sensory impairment Upper limb undergrowth Sensory neuropathy Polyneuropathy Heart block Onion bulb formation Peripheral demyelination Abnormality of the foot Axonal degeneration Split hand Chronic diarrhea Foot dorsiflexor weakness Decreased motor nerve conduction velocity Decreased nerve conduction velocity Hammertoe Nausea Limb muscle weakness Epileptic spasms Diarrhea Steppage gait Multifocal seizures Mitochondrial encephalopathy Pain Blindness Vomiting Neuritis Spinal deformities Peripheral axonal neuropathy Areflexia Hyporeflexia Tonic pupil Motor polyneuropathy Chronic sensorineural polyneuropathy Abnormal pupil morphology Diabetes mellitus Trophic changes related to pain Kyphoscoliosis Renal corticomedullary cysts Ophthalmoplegia Status epilepticus Recurrent skin infections IgA deficiency Cataract Irritability Brain atrophy Epileptic encephalopathy Severe muscular hypotonia Absence seizures High pitched voice Delayed CNS myelination Scoliosis High palate Myalgia Facial palsy Calf muscle hypertrophy Bicuspid aortic valve Hoarse voice Neck muscle weakness Paroxysmal dyskinesia Congestive heart failure Myoclonus Anxiety Abnormality of movement Choreoathetosis Delayed gross motor development Myokymia Facial myokymia Decreased antibody level in blood Short stature Failure to thrive Atrial septal defect Intellectual disability, mild Immunodeficiency Recurrent infections Abnormal heart morphology Rimmed vacuoles EMG: neuropathic changes Ptosis Amenorrhea Tubular basement membrane disintegration Depressivity Dementia Gait ataxia Mental deterioration Neurodegeneration Apraxia Pancreatic cysts Premature ovarian insufficiency Secondary amenorrhea Congenital nystagmus Loss of speech Progressive gait ataxia Periventricular leukomalacia Progressive leukoencephalopathy Chronic pancreatitis Kinetic tremor Type 1 muscle fiber predominance Renal insufficiency Abnormality of the mitochondrion Left atrial enlargement Weakness of long finger extensor muscles Amyotrophy of ankle musculature Toe extensor amyotrophy Sensorineural hearing impairment Hypertension Abnormality of the kidney Tubular atrophy Stage 5 chronic kidney disease Retinal degeneration Renal cyst Pancreatitis Nephronophthisis Arachnoid cyst Gout Cold-induced muscle cramps



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