Autoimmunity, and Waddling gait

Diseases related with Autoimmunity and Waddling gait

In the following list you will find some of the most common rare diseases related to Autoimmunity and Waddling gait that can help you solving undiagnosed cases.


Top matches:

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H


Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D


Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


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

Low match MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY


Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Top 5 symptoms//phenotypes associated to Autoimmunity and Waddling gait

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Lumbar hyperlordosis Progressive proximal muscle weakness Hyperlordosis Gowers sign Congestive heart failure Facial palsy Generalized hypotonia Pain Myopathy Pneumonia Respiratory distress Gait disturbance Hip dislocation Hypertension Neck muscle weakness Cardiomyopathy EMG: myopathic abnormalities Scoliosis Generalized muscle weakness Flexion contracture Calf muscle hypertrophy Increased variability in muscle fiber diameter Motor delay Hyporeflexia Feeding difficulties Sensorineural hearing impairment Myalgia Muscular dystrophy

Rare Symptoms - Less than 30% cases


Short neck Scapular winging Macroglossia Kyphosis Arthritis Myopia Platyspondyly Paresthesia Shoulder girdle muscle weakness Multiple lentigines Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Respiratory insufficiency Lower limb muscle weakness Vomiting Distal muscle weakness Limb-girdle muscular dystrophy Difficulty climbing stairs Hypothyroidism Recurrent infections Calf muscle pseudohypertrophy Headache Hyperlipidemia Pelvic girdle muscle weakness Spondyloepiphyseal dysplasia Fever Cognitive impairment Hepatomegaly Skeletal muscle atrophy Ovoid vertebral bodies Restrictive ventilatory defect Difficulty running Neck flexor weakness Increased muscle lipid content Abnormality of the dentition Abnormal lung morphology Growth delay Nystagmus Easy fatigability Bulbar palsy Muscle fiber atrophy Dysphonia Pectus carinatum Difficulty walking Kyphoscoliosis Pes cavus Dysphagia High palate Ptosis Long face Ataxia Hearing impairment Skeletal muscle fibrosis Rimmed vacuoles Spinal canal stenosis Myositis Bulbar signs Myofibrillar myopathy Muscle fiber splitting Loss of ability to walk Autophagic vacuoles Abnormality of muscle fibers Fatty replacement of skeletal muscle Percussion myotonia Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Constipation Progressive spastic paraplegia Brachycephaly Respiratory failure Proptosis Premature graying of hair Increased thyroid-stimulating hormone level Arthralgia Bowel incontinence Craniosynostosis Abnormality of the genitourinary system Spastic paraparesis Bone pain Increased intracranial pressure Shallow acetabular fossae Hypercalcemia Axonal degeneration Foot dorsiflexor weakness Lateral displacement of the femoral head Moyamoya phenomenon Hyperpigmentation in sun-exposed areas Nephrosclerosis Tall stature EMG abnormality Anterior pituitary dysgenesis Hyperpigmented nevi Congenital muscular dystrophy Keratitis Mask-like facies Premature arteriosclerosis Silver-gray hair Centrally nucleated skeletal muscle fibers Bowel urgency Exercise-induced myalgia Vitiligo Abnormal immunoglobulin level Flexion contracture of toe Abnormal T cell morphology Proximal muscle weakness in lower limbs Progressive spastic paraparesis Shoulder girdle muscle atrophy White hair Pelvic girdle muscle atrophy Quadriceps muscle weakness Encephalomalacia Dysarthria Dyspnea Progeroid facial appearance Limb muscle weakness Myopathic facies Osteomalacia Rickets Left ventricular systolic dysfunction Micrognathia EMG: myotonic runs Spasticity Abnormal macrophage morphology Peripheral neuropathy Hyperreflexia Increased endomysial connective tissue Microcephaly Right ventricular dilatation Babinski sign Muscle fiber necrosis Tip-toe gait Restrictive deficit on pulmonary function testing Left ventricular failure Achilles tendon contracture EMG: positive sharp waves EMG: myotonic discharges Right ventricular hypertrophy Increased serum pyruvate Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Increased serum lactate Mitochondrial myopathy Severe lactic acidosis Decreased plasma carnitine Hepatic failure Cytochrome C oxidase-negative muscle fibers Absent muscle fiber gamma sarcoglycan Increased muscle glycogen content Muscle fiber hypertrophy Lactic acidosis Pes planus Acidosis Failure to thrive Reduced muscle fiber alpha sarcoglycan Upper limb muscle weakness Retrognathia Paraparesis Cafe-au-lait spot Hepatic steatosis Ichthyosis Elevated hepatic transaminase Diabetes mellitus Obesity Fatigue Pulmonary insufficiency Hypertriglyceridemia Premature loss of primary teeth Chronic pain Chondrocalcinosis Narrow face Papilledema Premature loss of teeth Horseshoe kidney Spastic gait Progressive muscle weakness Skeletal muscle hypertrophy Arrhythmia Abnormality of the nervous system Frequent falls Spastic paraplegia Broad-based gait Paraplegia Inability to walk Unsteady gait Hypopigmentation of the skin Insulin resistance Sepsis Nevus Sensory impairment Psoriasiform dermatitis Febrile seizures Exercise intolerance Fasciculations Steroid-resistant nephrotic syndrome Chronic kidney disease Mucopolysacchariduria Glaucoma Micromelia Genu valgum Narrow chest Broad forehead Respiratory tract infection Apnea Skeletal dysplasia Polydactyly Flat face Severe short stature Hernia Midface retrusion Malar flattening Talipes equinovarus Cataract Cleft palate Muscular hypotonia Retinal degeneration Pulmonary hypoplasia Acetylcholine receptor antibody positivity Genu varum Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Vestibular dysfunction Bowing of the legs Back pain Growth abnormality Retinal detachment Sleep apnea Coxa vara Rhizomelia Abnormality of the metaphysis Osteoarthritis High myopia Limb undergrowth Limitation of joint mobility Hypertelorism EMG: impaired neuromuscular transmission Barrel-shaped chest Cyanosis Nasal speech Poor suck Poor head control Microretrognathia Congenital hip dislocation Diplopia Decreased fetal movement Esotropia Toe walking Distal amyotrophy Ophthalmoplegia Arthrogryposis multiplex congenita Joint laxity Gastroesophageal reflux Polyhydramnios Recurrent respiratory infections Low-set ears Stridor Spinal rigidity Episodic respiratory distress EEG with polyspike wave complexes Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze Central sleep apnea Weak cry Spinal deformities Respiratory arrest Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Fatigable weakness Vitreoretinopathy Myelopathy Hypoplasia of the capital femoral epiphysis Coarse hair Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Reduced bone mineral density High pitched voice Azoospermia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Heterotopia Fine hair Intellectual disability, profound Emphysema Combined immunodeficiency Microdontia Lymphoproliferative disorder Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy B-cell lymphoma Hypermelanotic macule Disproportionate short-trunk short stature Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Nephrotic syndrome Decreased testicular size Limited elbow movement Abnormal facial shape Immunodeficiency Renal insufficiency Diarrhea Cerebellar atrophy Intrauterine growth retardation Depressed nasal bridge Anemia Delayed calcaneal ossification Dementia Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Thrombocytopenia Osteopenia Lymphoma Abnormality of skin pigmentation Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Nephropathy Bulbous nose Stage 5 chronic kidney disease Thin upper lip vermilion Astigmatism Malabsorption Corneal opacity Stroke Scarring Developmental regression Abnormality of the kidney Proteinuria Premature graying of body hair



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Hip dislocation, related diseases and genetic alterations Hydrocephalus and Premature birth, related diseases and genetic alterations Myopathy and Hernia, related diseases and genetic alterations Spasticity and Glioma, related diseases and genetic alterations Ataxia and Combined immunodeficiency, related diseases and genetic alterations Hearing impairment and Subcutaneous nodule, related diseases and genetic alterations

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