Flexion contracture, and Pneumonia

Diseases related with Flexion contracture and Pneumonia

In the following list you will find some of the most common rare diseases related to Flexion contracture and Pneumonia that can help you solving undiagnosed cases.

Top matches:

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Other less relevant matches:

PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

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 Flexion contracture and Pneumonia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Proximal muscle weakness Global developmental delay Generalized muscle weakness Failure to thrive Muscular hypotonia Facial palsy Feeding difficulties Muscular dystrophy Hyporeflexia Elevated serum creatine phosphokinase Respiratory failure Cardiomyopathy Areflexia Recurrent pneumonia High palate Motor delay Neonatal hypotonia Nasal speech Restrictive ventilatory defect Limb muscle weakness Hyperlordosis Hypertonia Waddling gait Dysphagia Gowers sign Increased variability in muscle fiber diameter Achilles tendon contracture

Rare Symptoms - Less than 30% cases

Scapular winging Feeding difficulties in infancy Respiratory distress Neck muscle weakness Paralysis Decreased fetal movement Seizures Growth delay Elbow flexion contracture Progressive muscle weakness Edema Hypoventilation Apnea Pectus excavatum Gait disturbance Hepatomegaly Nocturnal hypoventilation Muscle fiber necrosis Poor head control Neck flexor weakness Restrictive deficit on pulmonary function testing Difficulty running Respiratory arrest Right ventricular hypertrophy Congestive heart failure Fever Reduced vital capacity Increased endomysial connective tissue Unsteady gait Muscular hypotonia of the trunk Lower limb muscle weakness Dysarthria Gastroesophageal reflux Distal muscle weakness Limb-girdle muscular dystrophy Rigidity Abnormal lung morphology Polyneuropathy Narrow face Distal amyotrophy Ragged-red muscle fibers Infantile muscular hypotonia Congenital contracture Myopathic facies Abnormality of carboxylic acid metabolism Aortic root aneurysm Facial diplegia Nemaline bodies Trismus Type 1 muscle fiber predominance Central hypoventilation Myalgia Generalized limb muscle atrophy Anemia Peripheral neuropathy Mitral valve prolapse Kyphoscoliosis Difficulty walking Clubbing Obesity Alopecia Hyperhidrosis Dyspnea Papule Delayed puberty Hypopigmentation of the skin Nail dysplasia Fine hair Telangiectasia Hypohidrosis Pulmonary fibrosis Dilatation Truncal obesity Scleroderma Raynaud phenomenon Heat intolerance Poikiloderma Thin eyebrow Erysipelas Mottled pigmentation Micrognathia Ptosis Kyphosis Recurrent infections Thrombocytopenia Arthralgia Thoracolumbar scoliosis Cough Abnormality of the cerebral white matter Arthrogryposis multiplex congenita Ventricular hypertrophy Congenital muscular dystrophy High pitched voice Generalized amyotrophy Spinal rigidity Hip contracture Malignant hyperthermia Cor pulmonale Short stature Abnormality of the rib cage Axial muscle weakness Peroneal muscle atrophy Orthopnea Crackles Minicore myopathy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Hypertension Bronchiolitis obliterans organizing pneumonia Hepatosplenomegaly Conjunctivitis Elevated hepatic transaminase Arthritis Erythema Scarring Skin rash Lymphadenopathy Cerebral calcification Hypertriglyceridemia Inflammatory abnormality of the skin Sinusitis Lymphopenia Hypercholesterolemia Finger swelling Lipodystrophy Keratitis Increased antibody level in blood Hypermelanotic macule Microcytic anemia Myositis Calcinosis Bronchiolitis Hypochromic anemia Panniculitis Bronchiolitis obliterans Muscle stiffness Reduced muscle fiber alpha sarcoglycan Cataract Apraxia Strabismus Delayed gross motor development Spasticity Hyperreflexia Optic atrophy Hypoplasia of the corpus callosum Cerebral palsy Babinski sign Involuntary movements Bradykinesia Intellectual disability, profound Nystagmus Choreoathetosis Postnatal microcephaly Hydrops fetalis Leukodystrophy Aspiration Horizontal nystagmus Leukoencephalopathy Malnutrition Progressive spasticity Aspiration pneumonia Developmental stagnation Hyperkinesis Hypokinesia Chorea Joint laxity Oculogyric crisis Abnormality of the skeletal system Ventricular septal defect Orofacial dyskinesia Atrial septal defect Hernia Abnormal heart morphology Recurrent respiratory infections Morphological abnormality of the pyramidal tract Umbilical hernia Hypomimic face Limb dystonia Abnormal cardiac septum morphology Limb hypertonia Tetraparesis Spinal muscular atrophy Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Cleft palate Parkinsonism Ocular flutter Hyporeflexia of lower limbs EMG: myopathic abnormalities Muscle fiber cytoplasmatic inclusion bodies Skeletal muscle hypertrophy Progressive distal muscle weakness Calf muscle hypertrophy Difficulty climbing stairs Progressive proximal muscle weakness Autophagic vacuoles Upper limb muscle weakness Left ventricular failure Myofibrillar myopathy Frequent falls Muscle fiber atrophy Tip-toe gait Calf muscle pseudohypertrophy Centrally nucleated skeletal muscle fibers Right ventricular dilatation Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Cognitive impairment Broad-based gait Talipes equinovarus Long fingers Dyskinesia Encephalopathy Abnormality of movement Abnormality of eye movement Respiratory tract infection Camptodactyly of finger Severe muscular hypotonia Abnormal pyramidal sign Irritability Abnormality of the eye Bulbar palsy Lumbar hyperlordosis Increased connective tissue Diaphragmatic paralysis Intellectual disability Constipation Arrhythmia Absent speech Dystonia Long face Inability to walk Macroglossia Tremor Cardiac conduction abnormality


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