Muscle weakness, and Recurrent infections

Diseases related with Muscle weakness and Recurrent infections

In the following list you will find some of the most common rare diseases related to Muscle weakness and Recurrent infections that can help you solving undiagnosed cases.

Top matches:

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic

Related symptoms:

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia


SOURCES: OMIM MESH MENDELIAN

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 Is also known as agammaglobulinemia, autosomal recessive, due to cd79a defect

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Diarrhea
  • Respiratory tract infection
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

COMBINED IMMUNODEFICIENCY WITH GRANULOMATOSIS Is also known as cid due to rag 1/2 deficiency|combined immunodeficiency due to rag 1/2 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Lymphoma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH GRANULOMATOSIS

Other less relevant matches:

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by 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 2 Is also known as sma-ii|sma type 2|intermediate spinal muscular atrophy|chronic spinal muscular atrophy|sma ii|muscular atrophy, spinal, intermediate type|sma2|muscular atrophy, spinal, infantile chronic form|sma type ii|chronic infantile spinal muscular atrophy

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

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

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

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Muscle weakness and Recurrent infections

Symptoms // Phenotype % cases
Areflexia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Recurrent infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection Failure to thrive Generalized hypotonia Tongue fasciculations Spinal muscular atrophy Tremor Skeletal muscle atrophy Fatigable weakness Decreased antibody level in blood Degeneration of anterior horn cells

Rare Symptoms - Less than 30% cases

Gait disturbance Progressive muscle weakness IgG deficiency Respiratory insufficiency Fasciculations Intellectual disability Feeding difficulties Abnormality of the skeletal system EMG abnormality Axonal degeneration Elevated serum creatine phosphokinase Hyporeflexia Renal insufficiency Ophthalmoplegia Dementia Pes cavus Lymphopenia Ataxia Rhabdomyolysis Diarrhea Acute kidney injury Recurrent pneumonia Neutropenia Malignant hyperthermia Agammaglobulinemia Decreased number of large peripheral myelinated nerve fibers Respiratory insufficiency due to muscle weakness Proximal muscle weakness in lower limbs Seizures Paralysis Proximal amyotrophy EMG: neuropathic changes Tetraparesis Hearing impairment Sensorineural hearing impairment Hyperreflexia Decreased fetal movement Abnormal cardiac septum morphology Babinski sign EMG: myopathic abnormalities Multiple joint contractures Easy fatigability Minicore myopathy Rectus femoris muscle atrophy Global developmental delay Vitamin B12 deficiency Flexion contracture Infantile axial hypotonia Ventricular septal defect Respiratory distress Myopathic facies Hernia Abnormal heart morphology Type 1 muscle fiber predominance Respiratory failure Umbilical hernia Joint laxity Muscular hypotonia of the trunk Atrial septal defect Methylmalonic aciduria Pneumonia Lethargy Anemia Intellectual disability, severe Vomiting Thrombocytopenia Proteinuria Abnormality of chromosome stability Abnormality of the nervous system Irritability Abnormal bleeding Atonic seizures Aciduria Pancytopenia Leukopenia Macrocytic anemia IgA deficiency Abnormality of the mouth IgM deficiency Stomatitis Progressive distal muscular atrophy Reticulocytopenia Myoclonus Generalized-onset seizure Difficulty walking EEG abnormality Facial palsy Hyperlordosis Neurological speech impairment Unsteady gait Megaloblastic anemia Generalized myoclonic seizures Bilateral sensorineural hearing impairment Granulocytopenia Frequent falls Absence seizures Gowers sign Oral-pharyngeal dysphagia Scapular winging Loss of consciousness Generalized amyotrophy Megaloblastic bone marrow Congenital neutropenia Falls Limb ataxia Myopathy Hand tremor Recurrent viral infections Decrease in T cell count B lymphocytopenia Granulomatosis T-cell lymphoma Iritis Hip dislocation Hypertension Combined immunodeficiency Arthralgia Arthritis Autoimmunity Skin rash Leukemia Vasculitis Purpura Vitiligo Psoriasiform dermatitis Glomerulonephritis Dark urine Fever Myalgia Inability to walk Generalized muscle weakness Recurrent upper respiratory tract infections Hyperkalemia Myoglobinuria Recurrent myoglobinuria Lymphoma Acute rhabdomyolysis Otitis media Recurrent otitis media Chronic diarrhea Recurrent bacterial infections Bronchitis Recurrent bronchitis Splenomegaly Systemic lupus erythematosus Rheumatoid arthritis Motor delay Impaired vibratory sensation Telangiectasia Pain Truncal ataxia Oculomotor apraxia Hypercholesterolemia External ophthalmoplegia Hypoalbuminemia Sensory axonal neuropathy Apraxia Gaze-evoked nystagmus Progressive external ophthalmoplegia Hypometric saccades Facial grimacing Peripheral axonal degeneration Limb fasciculations Ptosis Choreoathetosis Chorea Antinuclear antibody positivity Dysarthria Membranoproliferative glomerulonephritis Angioedema Discoid lupus rash Vasculitis in the skin Nystagmus Cognitive impairment Peripheral neuropathy Cerebellar atrophy Progressive cerebellar ataxia Dystonia Gait ataxia Mental deterioration Distal muscle weakness Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Sensory neuropathy Agranulocytosis


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