Failure to thrive, and Proximal muscle weakness

Diseases related with Failure to thrive and Proximal muscle weakness

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

Top matches:

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

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:

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Ptosis
  • Feeding difficulties
  • Motor delay


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

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

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency due to muscle weakness Scoliosis Cardiomyopathy Difficulty walking Hepatomegaly Skeletal muscle atrophy Talipes equinovarus Congestive heart failure Peripheral neuropathy Immunodeficiency Abnormality of the liver Ptosis Hearing impairment Progressive muscle weakness Global developmental delay Motor delay

Rare Symptoms - Less than 30% cases

Decreased fetal movement Decreased liver function Poor suck Fatigable weakness Encephalopathy Intellectual disability, mild Areflexia Hyporeflexia Kyphoscoliosis Spasticity Distal muscle weakness Gait disturbance Myopathic facies Growth delay Hepatic fibrosis Muscular dystrophy Lymphadenopathy Scarring Limb-girdle muscular dystrophy Flexion contracture Pyelonephritis Muscular hypotonia Limb muscle weakness Cirrhosis Waddling gait Dilated cardiomyopathy Hepatic failure Myalgia Elevated hepatic transaminase Hepatosplenomegaly Recurrent infections Easy fatigability Intellectual disability Respiratory failure Fever Feeding difficulties Respiratory distress Dyspnea Polyhydramnios Rigidity Apnea Intellectual disability, severe Behavioral abnormality Arthrogryposis multiplex congenita Pes cavus Ophthalmoplegia Progressive proximal muscle weakness Paresthesia Paralysis Gowers sign Severe global developmental delay Lethargy Stroke Aspiration Coma Epileptic encephalopathy Abnormality of the nervous system Hypsarrhythmia Myocardial infarction Progressive neurologic deterioration Hallucinations Paraparesis Incoordination Coronary artery atherosclerosis Attention deficit hyperactivity disorder High palate Hyperactivity Akinesia Hyperlordosis Aciduria Autistic behavior Autism Ascites Sudden cardiac death Hydrops fetalis Exercise intolerance Reduced tendon reflexes Portal hypertension Difficulty climbing stairs Cognitive impairment Exertional dyspnea Fetal akinesia sequence Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Microcephaly Ataxia Delayed speech and language development Hypoplasia of the corpus callosum Cerebral atrophy Thromboembolism Homocystinuria Delusions Cardiomegaly Obesity Thin upper lip vermilion Hypoglycemia Deeply set eye Carcinoma Hypertrophic cardiomyopathy Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Otitis media Epistaxis Malar flattening Ventricular hypertrophy Hypertriglyceridemia Sinusitis Hyperlipidemia Progressive hearing impairment Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Midface retrusion Anteverted nares Hypertension Hypocalcemia Hyperhomocystinemia Abnormal facial shape Diarrhea Thrombocytopenia Pectus excavatum Pneumonia Dry skin Neutropenia Sepsis Ectodermal dysplasia Chronic diarrhea Encephalitis Depressed nasal bridge Anhidrosis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Protracted diarrhea Short stature Pain Edema Follicular hyperkeratosis Infantile muscular hypotonia Abnormality of the cerebral white matter Hepatitis Cyanosis Optic atrophy Generalized muscle weakness Kyphosis Visual loss Tapered finger Hemolytic anemia Facial palsy Talipes Muscle specific kinase antibody positivity Peripheral axonal neuropathy Falls Distal sensory impairment Sensory impairment Optic disc pallor Sensorimotor neuropathy Foot dorsiflexor weakness Increased body weight Delayed gross motor development Poor head control Single fiber EMG abnormality Generalized hypotonia due to defect at the neuromuscular junction Spinal deformities Hashimoto thyroiditis Diplopia Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Glycosuria Abnormality of the immune system Weak cry Hyperthyroidism Psychosis Primary adrenal insufficiency Acrocyanosis Acetylcholine receptor antibody positivity Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Decreased nerve conduction velocity Wrist drop Plantar flexion contractures Torticollis Neonatal hypotonia Protruding ear Decreased muscle mass Camptodactyly of finger Papule Abnormality of the cardiovascular system Language impairment Elbow flexion contracture Congenital hip dislocation Failure to thrive in infancy Abnormality of the skeletal system Congenital contracture Congenital muscular dystrophy Ankle contracture Limb-girdle muscle weakness Systemic lupus erythematosus Abnormality of the mitochondrion Diaphragmatic paralysis Congenital muscular torticollis Limb-girdle muscle atrophy Necrotizing myopathy Hyperkeratosis Long fingers Autoimmunity Respiratory tract infection Recurrent respiratory infections Scapular winging EMG: myopathic abnormalities Multiple joint contractures Rhabdomyolysis Malignant hyperthermia Type 1 muscle fiber predominance Minicore myopathy Infantile axial hypotonia Rectus femoris muscle atrophy Dysphagia Pharyngitis Dysarthria Strabismus Eczema Abnormality of creatine metabolism Psoriasiform dermatitis Leukocytosis Severe failure to thrive Recurrent pharyngitis Organic aciduria Gastrointestinal inflammation Ketotic hypoglycemia


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