Cardiomyopathy, and Motor delay

Diseases related with Cardiomyopathy and Motor delay

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


Top matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8


Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

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 SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS


Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

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Other less relevant matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

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 MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Low match MYOPATHY, CENTRONUCLEAR, 5; CNM5


Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

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

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 GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Motor delay

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Intellectual disability Generalized hypotonia Dystonia Facial palsy Muscular hypotonia Mildly elevated creatine phosphokinase Microcephaly Gowers sign Tremor Intellectual disability, mild Ophthalmoplegia Exercise intolerance Muscle cramps

Rare Symptoms - Less than 30% cases


EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Gait disturbance Ataxia Waddling gait Lower limb muscle weakness Falls Ptosis Neck muscle weakness Peripheral axonal neuropathy Easy fatigability Nystagmus Orofacial dyskinesia Resting tremor Dyskinesia Muscular dystrophy Dysarthria Difficulty walking Axial muscle weakness Lactic acidosis Centrally nucleated skeletal muscle fibers Neonatal hypotonia Respiratory insufficiency Chorea Seizures Involuntary movements Delayed gross motor development Congestive heart failure Specific learning disability Optic atrophy High palate Narrow mouth Retrognathia Peripheral neuropathy Bifid uvula Areflexia Distal upper limb muscle weakness Severe muscular hypotonia Hearing impairment Fatigable weakness of bulbar muscles Dilatation of the ventricular cavity Cognitive impairment Hypoglycosylation of alpha-dystroglycan Proximal muscle weakness in upper limbs Hip contracture Cataract Abnormal glycosylation Distal lower limb muscle weakness Difficulty climbing stairs Abnormality of extrapyramidal motor function Limb-girdle muscular dystrophy Failure to thrive Progressive extrapyramidal muscular rigidity Stereotypy Hypertriglyceridemia Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Ventricular hypertrophy Left ventricular hypertrophy Deeply set eye Hepatic fibrosis Hyperlipidemia Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Elevated hepatic transaminase Hypoglycemia Increased variability in muscle fiber diameter Central core regions in muscle fibers Difficulty running Insulin-resistant diabetes mellitus Abnormal posturing Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Micrognathia Short stature Thin upper lip vermilion Growth delay Depressed nasal bridge Hepatomegaly Immunodeficiency Midface retrusion Hepatosplenomegaly Flexion contracture Loss of speech Mitochondrial depletion Choreoathetosis Hyperlordosis Abnormal muscle fiber dystrophin expression Pelvic girdle muscle weakness Abnormal left ventricle morphology Myocardial fibrosis Reduced ejection fraction Shoulder girdle muscle weakness Myalgia Behavioral abnormality Facial myokymia Paroxysmal dyskinesia Myokymia Limb hypertonia Abnormality of movement Fatigable weakness Muscular hypotonia of the trunk Anxiety Myoclonus Hypertonia Hyperreflexia Staring gaze Histiocytoid cardiomyopathy Increased serum lactate Generalized muscle weakness Metabolic acidosis Pulmonary hypoplasia Hypertrophic cardiomyopathy EEG abnormality Acidosis Ophthalmoparesis Proximal amyotrophy Difficulty standing Periventricular leukomalacia Congenital muscular dystrophy Infantile muscular hypotonia Frequent falls Mitral valve prolapse Ichthyosis Poor speech Attention deficit hyperactivity disorder Hyperactivity Hyporeflexia Atrial septal defect Skeletal muscle atrophy Delayed speech and language development Progressive leukoencephalopathy Progressive gait ataxia Spasticity Congenital nystagmus Secondary amenorrhea Premature ovarian insufficiency Ragged-red muscle fibers Leukoencephalopathy Apraxia Amenorrhea Neurodegeneration Abnormality of the cerebral white matter Mental deterioration Gait ataxia Dementia Depressivity Cerebellar atrophy Increased hepatic glycogen content



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