Congestive heart failure, and Muscle cramps

Diseases related with Congestive heart failure and Muscle cramps

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Muscle cramps that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Medium match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

Medium match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Medium match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Medium match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Top 5 symptoms//phenotypes associated to Congestive heart failure and Muscle cramps

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Muscle cramps. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Respiratory insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase

Common Symptoms - More than 50% cases


Myalgia

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Exercise intolerance Rhabdomyolysis Muscular hypotonia Generalized hypotonia Seizures Fatigue Depressivity Cardiomegaly Vomiting Behavioral abnormality Acidosis Hypoglycemia Hypertrophic cardiomyopathy Decreased liver function Lactic acidosis Cardiac arrest Abnormality of the liver Hyperammonemia Pigmentary retinopathy Myoglobinuria Left ventricular hypertrophy Peripheral neuropathy Hypoketotic hypoglycemia Lethargy Hypertension Hypotension Ventricular arrhythmia Palpitations Coma Metabolic acidosis Hepatic steatosis EMG abnormality Failure to thrive Proximal muscle weakness Difficulty walking Hypoparathyroidism Ventricular hypertrophy Hyporeflexia Elevated hepatic transaminase Cardiorespiratory arrest Encephalopathy Limb muscle weakness Global developmental delay Cognitive impairment Short stature Motor delay Respiratory distress Optic atrophy Hypomagnesemia Hepatomegaly Edema Respiratory failure Retinopathy

Rare Symptoms - Less than 30% cases


Small for gestational age Areflexia Glycosuria Skeletal myopathy Reduced ejection fraction Dysphagia Abnormality of the gastrointestinal tract Back pain Ventricular tachycardia Hydrops fetalis Atrial fibrillation Anorexia Chest pain Distal sensory impairment Reduced visual acuity Hemiplegia Gait disturbance Skeletal muscle atrophy Hyperlipidemia Nausea Abnormality of the amniotic fluid Vertigo Abnormal renal physiology Feeding difficulties Bundle branch block Atrioventricular block Ragged-red muscle fibers Syncope Hypothyroidism Cataract Renal insufficiency Dilatation Respiratory tract infection Generalized muscle weakness Tricuspid regurgitation Hearing impairment Ataxia Renal tubular acidosis Fever Recurrent myoglobinuria Abnormality of the cerebral white matter Prenatal maternal abnormality Chronic fatigue Sensorineural hearing impairment Nausea and vomiting Abdominal pain Abnormality of the renal tubule Anxiety Paresthesia Fatigable weakness Arthralgia Dyspnea Headache Diarrhea Reduced bone mineral density Second degree atrioventricular block Basal ganglia calcification Intellectual disability Myocardial fibrosis Easy fatigability Tachypnea Constipation Sudden cardiac death Ventricular fibrillation Ophthalmoparesis Hypokalemia Tetraplegia Tachycardia Muscle stiffness Paralysis Heat intolerance Drowsiness Exercise-induced myalgia Respiratory arrest Nonketotic hypoglycemia Exercise-induced rhabdomyolysis Tremor Restrictive ventilatory defect Difficulty climbing stairs Weight loss Scapular winging Hyperhidrosis Abnormal lung morphology Hyperlordosis Muscular dystrophy Shortened PR interval Hyperactivity Waddling gait Impaired myocardial contractility Exercise-induced myoglobinuria Hyperkeratosis Left ventricular septal hypertrophy Proteinuria Thick lower lip vermilion Tortuosity of conjunctival vessels Nephrotic syndrome Urinary incontinence ST segment depression Unexplained fevers Arthritis Abnormality of the cardiovascular system Mitral valve prolapse Posteriorly rotated ears Coarse facial features Mandibular prognathia Carcinoma Functional abnormality of the gastrointestinal tract Abnormality of the nervous system Abnormality of the forehead Bulbous nose Stage 5 chronic kidney disease Delayed puberty Malabsorption Pruritus Thick eyebrow Abnormality of glycosphingolipid metabolism Papule Corneal opacity Thick vermilion border Abnormality of the kidney Hematuria Nephropathy Hyperkeratotic papule Impaired renal concentrating ability Abdominal distention Cough Stroke Skin rash Developmental regression Prominent nasal bridge Abnormality of branched chain family amino acid metabolism Midface retrusion Proximal tubulopathy Acroparesthesia Abnormal common carotid artery morphology Oliguria Generalized aminoaciduria Abnormal ST segment Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Increased carotid artery intimal medial thickness Episodic vomiting Increased glomerular filtration rate Medulloblastoma Heavy proteinuria Organic aciduria Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Acute kidney injury Abnormality of the common coagulation pathway Stridor Abnormal glomerular filtration rate Polycystic kidney dysplasia Slurred speech Glutaric aciduria Progressive spastic quadriplegia Anemia Elevated plasma acylcarnitine levels Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Mitral regurgitation Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Ketotic hypoglycemia Personality disorder Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Tenesmus Hypoglycemic coma Myocardial infarction Tubulointerstitial fibrosis Mucosal telangiectasiae Elevated serum creatinine Decreased female libido Vascular skin abnormality Peripheral arterial stenosis Retinal vascular tortuosity Supraventricular tachycardia Corneal crystals Limb pain Large earlobe Oligospermia Tubular atrophy Tubulointerstitial nephritis Abnormality of cardiovascular system physiology Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Abnormality of temperature regulation Xerostomia Poor head control Abnormal EKG Nephrogenic diabetes insipidus Abnormality of lipid metabolism Aortic root aneurysm Clubbing of fingers Abnormal endocardium morphology Abnormal heart valve morphology Abnormal cornea morphology Miosis T-wave inversion Abnormal aortic valve morphology Abnormal thrombosis Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Angina pectoris Abnormality of the nose Dysesthesia Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Abnormality of femur morphology Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Biventricular hypertrophy Wheezing Glomerulopathy Subcutaneous nodule Purpura Impaired temperature sensation Chronic kidney disease Hyposthenuria Tinnitus Ischemic stroke Corneal dystrophy Shortened QT interval Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Aminoaciduria Prominent supraorbital ridges Spontaneous abortion Chronic pain Fasciculations Angiokeratoma corporis diffusum Decreased lacrimation Coronary artery stenosis Bradycardia Concentric hypertrophic cardiomyopathy Lymphedema Hypohidrosis Obstructive lung disease Abnormality of the hand Telangiectasia of the skin Emphysema Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Decreased glomerular filtration rate Coronary artery atherosclerosis Impotence Vascular tortuosity Loss of consciousness Distal renal tubular acidosis Glomerulosclerosis Increased blood urea nitrogen Reduced sperm motility Anhidrosis Angiokeratoma Polyuria Diabetes insipidus Impaired vibratory sensation Clubbing Heart murmur Personality changes Polydipsia Abnormal autonomic nervous system physiology External ophthalmoplegia Mutism Pes cavus Abnormal electroretinogram EMG: myopathic abnormalities Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Psychosis Progressive visual loss Distal amyotrophy Scarring Mental deterioration Abnormality of the eye Visual loss Generalized amyotrophy Myopia Visual impairment Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Episodic flaccid weakness Respiratory paralysis Neurodevelopmental delay Abnormal retinal morphology Exercise-induced muscle fatigue Increased cerebral lipofuscin Abnormality of the nail Nephrolithiasis Eczema Dry skin Alopecia Infantile muscular hypotonia Cholestasis Feeding difficulties in infancy Apnea Glycogen accumulation in muscle fiber lysosomes Suicidal ideation Hypokinesia Macular hypopigmentation Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Myofibrillar myopathy Wolff-Parkinson-White syndrome Late-onset proximal muscle weakness Periodic hypokalemic paresis Nephrocalcinosis Shoulder girdle muscle weakness Reduced muscle fiber merosin Reduced muscle fiber alpha dystroglycan Thigh hypertrophy Abnormality of the Achilles tendon Nocturnal hypoventilation Diaphragmatic weakness Pelvic girdle muscle weakness Restrictive deficit on pulmonary function testing Left ventricular failure Achilles tendon contracture Difficulty running Autism Vertebral fusion Calf muscle hypertrophy Toe walking Congenital muscular dystrophy Limb-girdle muscular dystrophy Frequent falls Macroglossia Falls Kyphoscoliosis Kyphosis Atrial septal defect Hepatosplenomegaly Increased intramyocellular lipid droplets Mildly elevated creatine phosphokinase Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Hashimoto thyroiditis Thyroiditis Hyperthyroidism Prolonged QT interval Hyperkalemia Irritability Myotonia Goiter Lower limb muscle weakness Proptosis Obesity Hyperreflexia Hepatocellular necrosis Dicarboxylic aciduria Decreased plasma carnitine Pericardial effusion Autistic behavior Hypocalcemia Abnormality of the fingernails Spastic tetraparesis Muscle fiber atrophy Abnormal facial shape Strabismus Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Sideroblastic anemia Titubation Depressed nasal bridge Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Hyperaldosteronism Heart block Mitochondrial myopathy Increased CSF protein Progressive external ophthalmoplegia Spasticity Dysarthria Primary adrenal insufficiency Aciduria Pancreatitis Type I diabetes mellitus Clonus Leukodystrophy Wide anterior fontanel Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Increased serum lactate Macrocephaly Gliosis Renal cyst Pulmonary hypoplasia Joint hyperflexibility Congenital cataract Abnormality of the pinna Telecanthus Jaundice High forehead Gait ataxia Exocrine pancreatic insufficiency Adrenal insufficiency Increased intracranial pressure Laryngospasm Acute hepatic steatosis Progressive peripheral neuropathy Decreased nerve conduction velocity Sensory impairment Hepatic failure Peripheral axonal neuropathy Distal muscle weakness Recurrent respiratory infections Ventriculomegaly Hypermagnesiuria Cortical myoclonus Microcephaly Hypocalcemic seizures Writer's cramp Increased circulating renin level Abnormal pattern of respiration Tetany Reduced consciousness/confusion Hyperphosphatemia Irregular hyperpigmentation Emotional lability Hypercalciuria Respiratory failure requiring assisted ventilation Nystagmus Hemiplegia/hemiparesis Growth hormone deficiency Abnormality of mitochondrial metabolism Bilateral ptosis Nasal speech Incoordination Reduced tendon reflexes Leukoencephalopathy Scoliosis Abnormality of retinal pigmentation Cerebral calcification Memory impairment Sensory neuropathy Ptosis Ophthalmoplegia Nyctalopia Diabetes mellitus Hypogonadism Myoclonus Dementia Severe short stature Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Blindness Cornea verticillata



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