Failure to thrive, and Limb muscle weakness

Diseases related with Failure to thrive and Limb muscle weakness

In the following list you will find some of the most common rare diseases related to Failure to thrive and Limb muscle weakness that can help you solving undiagnosed cases.

Top matches:

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Other less relevant matches:

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

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE 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 RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Limb muscle weakness

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Global developmental delay Skeletal muscle atrophy Flexion contracture Talipes equinovarus Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Hyporeflexia Progressive muscle weakness Proximal muscle weakness Scoliosis Poor head control Decreased fetal movement Facial palsy Muscular dystrophy Hyperlordosis Hepatomegaly Abnormality of the liver Myopathy Lethargy Exercise intolerance Apnea Cardiomyopathy Seizures Waddling gait Feeding difficulties Hypertension Pain Constipation

Rare Symptoms - Less than 30% cases

Behavioral abnormality Decreased nerve conduction velocity Hypoventilation Difficulty walking Paresthesia Distal muscle weakness Peripheral axonal neuropathy Small for gestational age Respiratory failure Gastroesophageal reflux Axial muscle weakness Urinary incontinence Gait disturbance Wrist drop Diaphragmatic weakness Elevated hepatic transaminase Neonatal hypotonia Myalgia Lactic acidosis Areflexia Abnormality of the cerebral white matter Neck muscle weakness Nocturnal hypoventilation Myocardial infarction Talipes Edema Abnormality of the foot Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Growth delay Congenital muscular dystrophy Dilated cardiomyopathy Spinal rigidity Arthrogryposis multiplex congenita Hydrops fetalis Generalized amyotrophy Hyperactivity Hallucinations Coma Hepatic fibrosis Decreased liver function Progressive neurologic deterioration Severe global developmental delay Hypsarrhythmia Stroke Attention deficit hyperactivity disorder Type 1 and type 2 muscle fiber minicore regions Cor pulmonale Abnormality of the nervous system Epileptic encephalopathy Reduced tendon reflexes Abnormality on pulmonary function testing Paraparesis Myopathic facies Difficulty climbing stairs Exertional dyspnea Fetal akinesia sequence Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Limb-girdle muscular dystrophy Intellectual disability Encephalopathy Microcephaly Ataxia Spasticity Portal hypertension Hypoplasia of the corpus callosum Intellectual disability, severe Akinesia Intellectual disability, mild Cerebral atrophy Restrictive deficit on pulmonary function testing Hypoglycemia Abnormality of skeletal morphology High pitched voice Cough Generalized muscle weakness Minicore myopathy Ventricular hypertrophy Elbow flexion contracture Nasal speech Crackles Gowers sign Increased variability in muscle fiber diameter Orthopnea Rigidity Hip contracture Muscle fiber necrosis Malignant hyperthermia Thoracolumbar scoliosis Peroneal muscle atrophy Right ventricular hypertrophy Reduced vital capacity Respiratory arrest Abnormality of the rib cage Hamstring contractures Pneumonia Incoordination Cholestasis Poor suck Coronary artery atherosclerosis Thromboembolism Delusions Homocystinuria Hyperhomocystinemia Feeding difficulties in infancy Muscle cramps Pigmentary retinopathy Infantile muscular hypotonia Fever Hyperammonemia Rhabdomyolysis Limited neck flexion Myoglobinuria Hypoketotic hypoglycemia Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Sudden cardiac death High palate Short stature Multiple mitochondrial DNA deletions Ascites Sensorimotor neuropathy Kyphosis Visual loss Pes cavus Kyphoscoliosis Falls Distal sensory impairment Sensory impairment Optic disc pallor Foot dorsiflexor weakness Hearing impairment Increased body weight Delayed gross motor development Spinal deformities Cognitive impairment Dysphagia Dilatation Hypertrophic cardiomyopathy Macroglossia Cardiomegaly Optic atrophy Limb-girdle muscle weakness Bowel incontinence Psychosis Anemia Vomiting Diarrhea Abdominal pain Tachycardia Hemolytic anemia Sensory neuropathy Polyneuropathy Hemiparesis Cachexia Hyponatremia Motor axonal neuropathy Respiratory paralysis Abdominal colic Elevated urinary delta-aminolevulinic acid Narrow chest Joint hyperflexibility Limitation of joint mobility EMG abnormality Left ventricular hypertrophy Abnormality of refraction Hepatic failure Degeneration of anterior horn cells Distal amyotrophy Premature birth Tachypnea Spinal muscular atrophy Axonal degeneration Weak cry Recurrent lower respiratory tract infections EMG: neuropathic changes Diaphragmatic eventration Camptodactyly of finger Diaphragmatic paralysis Inspiratory stridor Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Dyspnea Polyhydramnios Hepatosplenomegaly Cirrhosis Lower limb muscle weakness Paralysis Increased muscle glycogen content External ophthalmoplegia Abnormality of lysosomal metabolism Ptosis Blindness Cerebellar atrophy Acidosis Irritability Ophthalmoplegia Increased serum lactate Cerebral visual impairment Easy fatigability Hyperhidrosis Glucose intolerance Bundle branch block Progressive external ophthalmoplegia Ketosis Left bundle branch block Gastroparesis Cytochrome C oxidase-negative muscle fibers Intrauterine growth retardation Respiratory distress Cardiac conduction abnormality


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