Motor delay, and Hypertrophic cardiomyopathy

Diseases related with Motor delay and Hypertrophic cardiomyopathy

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

Top matches:

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

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Other less relevant matches:

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Top 5 symptoms//phenotypes associated to Motor delay and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Lactic acidosis Respiratory insufficiency Hepatomegaly Seizures Growth delay Left ventricular hypertrophy Lethargy Myopathy Elevated hepatic transaminase Increased serum lactate Acidosis Scoliosis Metabolic acidosis Congestive heart failure Cognitive impairment Muscular hypotonia Hyperammonemia Progressive muscle weakness Flexion contracture Encephalopathy Ventricular hypertrophy Generalized muscle weakness Neonatal hypotonia Skeletal myopathy Skeletal muscle atrophy Elevated serum creatine phosphokinase Cardiomegaly Arrhythmia

Rare Symptoms - Less than 30% cases

Confusion Respiratory tract infection Bradycardia Ptosis Intrauterine growth retardation Vomiting Feeding difficulties in infancy Dilated cardiomyopathy Fever Fatigue Hypoketotic hypoglycemia Decreased plasma carnitine Ketonuria Hypoglycemia Areflexia Spasticity Edema Intellectual disability Hepatic steatosis Limb muscle weakness Kyphoscoliosis Dysphagia Proximal muscle weakness Muscular dystrophy Depressed nasal bridge Sensorineural hearing impairment Cryptorchidism Generalized tonic-clonic seizures with focal onset Low-set ears Delayed speech and language development Fasting hypoglycemia Epicanthus Hearing impairment Wide nasal bridge Myopia Macrocephaly Downslanted palpebral fissures Intellectual disability, mild Abnormal heart morphology Hyperkeratosis Hypertelorism Sideroblastic anemia Endocardial fibroelastosis Myopathic facies Muscle cramps Decreased fetal movement Irregular respiration Congenital hip dislocation Reduced muscle carnitine level Impaired gluconeogenesis Limb-girdle muscular dystrophy Ophthalmoparesis Spinal rigidity Short stature Centrally nucleated skeletal muscle fibers Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Reye syndrome-like episodes Generalized limb muscle atrophy Stooped posture Minicore myopathy Acute encephalopathy Sparse hair High forehead Recurrent respiratory infections Respiratory failure Clumsiness Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Coma Irritability Abdominal pain Cirrhosis Pain Anemia Exercise intolerance Respiratory insufficiency due to muscle weakness Shock Tachypnea Ragged-red muscle fibers Abnormality of the coagulation cascade Generalized amyotrophy Ketosis Hypoplasia of the corpus callosum Strabismus Proximal tubulopathy Growth hormone deficiency Recurrent hypoglycemia Excessive daytime somnolence Broad forehead Neck muscle weakness Decreased muscle mass Leukemia Pulmonic stenosis Webbed neck Cafe-au-lait spot Nystagmus Relative macrocephaly Bilateral ptosis Curly hair Broad neck Asymmetry of the thorax Easy fatigability Delayed gross motor development Long eyebrows Juvenile myelomonocytic leukemia Talipes Decreased activity of mitochondrial respiratory chain Hip dislocation Diarrhea Macroglossia Urinary incontinence Bowel incontinence Abnormality of refraction Diaphragmatic weakness Increased muscle glycogen content Abnormality of lysosomal metabolism Peripheral neuropathy Pigmentary retinopathy Dilatation Mildly elevated creatine phosphokinase Prolonged QT interval Proportionate short stature Myoglobinuria Neonatal hypoglycemia Acute hepatic failure Hyperinsulinemic hypoglycemia Prolonged prothrombin time Gastroesophageal reflux Limited extraocular movements Dicarboxylic aciduria Gowers sign EEG abnormality Pulmonary hypoplasia Histiocytoid cardiomyopathy Staring gaze High palate Myalgia Distal muscle weakness Lower limb muscle weakness Myotonia Autophagic vacuoles Bundle branch block Right bundle branch block Difficulty climbing stairs Difficulty running Hypoventilation Progressive proximal muscle weakness Limb-girdle muscle weakness Proximal muscle weakness in lower limbs Hypoglycemic seizures Fasting hyperinsulinemia Facial palsy Poor suck Myoclonus Apnea Severe global developmental delay Sleep disturbance Spastic tetraplegia Tetraparesis Leukodystrophy Spastic tetraparesis Profound global developmental delay Hydrocephalus Cerebral edema Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Cleft palate Talipes equinovarus Polyhydramnios Pes planus Cerebral atrophy Microcephaly Hepatic necrosis Small for gestational age Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Increased circulating free fatty acid level Abnormality of acetylcarnitine metabolism Increased C-peptide level Ataxia Optic atrophy Dystonia Poor speech Hyperalaninemia Tachycardia Ascites Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Wolff-Parkinson-White syndrome Sinus bradycardia Severe lactic acidosis Decreased carnitine level in liver


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