Lymphoma, and Generalized muscle weakness

Diseases related with Lymphoma and Generalized muscle weakness

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


Top matches:

Medium match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Medium match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Medium match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

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Other less relevant matches:

Medium match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4


MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 Is also known as muscular dystrophy, congenital, fktn-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4

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 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Dysphagia
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

Low match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

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


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

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

Low match INSULINOMA


Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Related symptoms:

  • Seizures
  • Tremor
  • Fatigue
  • Behavioral abnormality
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about INSULINOMA

Top 5 symptoms//phenotypes associated to Lymphoma and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Lymphoma and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular dystrophy Neonatal hypotonia Foot dorsiflexor weakness Inability to walk Paresthesia Proximal muscle weakness Flexion contracture Scoliosis Dysphagia Areflexia Fatigue Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Autophagic vacuoles Bulbar palsy Limb muscle weakness Anemia Neoplasm Distal muscle weakness Hyperlordosis Falls Facial palsy Difficulty climbing stairs Osteopenia Waddling gait Limb-girdle muscular dystrophy Gowers sign Respiratory insufficiency due to muscle weakness Weight loss Intellectual disability Global developmental delay Dysarthria Polyneuropathy Skeletal muscle atrophy Hyporeflexia Pes cavus Recurrent viral infections Acute monocytic leukemia Recurrent aphthous stomatitis Myocardial necrosis Metaphyseal dysostosis Paroxysmal nocturnal hemoglobinuria Proximal femoral metaphyseal irregularity Metaphyseal chondrodysplasia Anterior rib cupping Enlargement of the costochondral junction Metaphyseal sclerosis Persistence of hemoglobin F Aplastic anemia Metaphyseal widening Ovoid vertebral bodies Pancytopenia Respiratory tract infection Pectus carinatum Small for gestational age Leukemia Malabsorption Narrow chest Carious teeth Ichthyosis Neutropenia Sepsis Specific learning disability Microdontia Eczema Apraxia Abnormality of the metaphysis Exocrine pancreatic insufficiency Myelodysplasia Acute myeloid leukemia Myeloid leukemia Multiple lipomas Steatorrhea Short thorax Neonatal respiratory distress Leukopenia Decreased liver function Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Bone marrow hypocellularity Short ribs Proximal femoral epiphysiolysis Hearing impairment Narrow sacroiliac notch Recurrent hypoglycemia Behavioral abnormality Hyperhidrosis Anxiety Lethargy Coma Palpitations Increased body weight Abnormality of vision Hyperinsulinemia Polyphagia Insomnia Hearing abnormality Hyperinsulinemic hypoglycemia Primary hyperparathyroidism Seizures Reduced consciousness/confusion Pituitary prolactin cell adenoma Nonketotic hypoglycemia Neuroendocrine neoplasm Fasting hyperinsulinemia Abnormality of higher mental function Zollinger-Ellison syndrome Abnormal rapid eye movement sleep Reactive hypoglycemia Transient global amnesia Neoplasm of the adrenal gland Fluctuations in consciousness Abnormality of pain sensation Tremor Lumbar hyperlordosis Irregular ossification at anterior rib ends Myofibrillar myopathy Congenital muscular dystrophy Dyspnea Lower limb muscle weakness Dysphonia Skeletal dysplasia Increased variability in muscle fiber diameter Calf muscle hypertrophy Rimmed vacuoles Spinal canal stenosis Progressive proximal muscle weakness Myositis Bulbar signs Shoulder girdle muscle weakness Muscle fiber splitting Hypertrophic cardiomyopathy Pelvic girdle muscle weakness Loss of ability to walk Abnormality of muscle fibers Fatty replacement of skeletal muscle Percussion myotonia Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Skeletal muscle fibrosis Ptosis Progressive muscle weakness Poor head control Easy fatigability Cardiomyopathy Pneumonia Elevated hepatic transaminase Calf muscle pseudohypertrophy Delayed skeletal maturation Abnormality of blood and blood-forming tissues Splenomegaly Lymphadenopathy Nephropathy Decreased antibody level in blood Nephrotic syndrome Tall stature Bone pain Hypercalcemia Pleural effusion Increased antibody level in blood Colon cancer Pathologic fracture Amyloidosis Myelin tomacula Acute kidney injury Spinal cord compression Neoplasm of the pancreas Elevated serum creatinine Vertebral compression fractures Multiple myeloma Prostate cancer Increased IgA level Abnormality of the bladder Increased IgG level Functional abnormality of the gastrointestinal tract Monoclonal immunoglobulin M proteinemia Brachial plexus neuropathy Segmental peripheral demyelination/remyelination Paraproteinemia Tetraparesis Pain Peripheral neuropathy Myoclonus Abnormality of the nervous system Paralysis Abnormality of movement Confusion Sensory neuropathy Muscle cramps Peripheral demyelination Hypotelorism Hoarse voice Vocal cord paresis Cranial nerve paralysis Back pain Abnormality of the voice Hammertoe Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Hodgkin lymphoma Vocal cord paralysis Constrictive median neuropathy Low back pain Abnormal myelination Abnormality of vitamin B12 metabolism Hyperproteinemia Thrombocytopenia Severe hydrops fetalis Pericardial effusion Spinal rigidity Cystic hygroma EMG: neuropathic changes Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Slender build Abnormality of the rib cage Neck flexor weakness Hand clenching Multiple pterygia Transient myeloproliferative syndrome Multiple joint contractures Mitochondrial depletion Late-onset distal muscle weakness Short stature Growth delay Failure to thrive Hepatomegaly Gait disturbance Abnormality of the skeletal system Respiratory distress Intellectual disability, mild Immunodeficiency Recurrent infections Mildly elevated creatine phosphokinase Myopathic facies Plasmacytoma Polyhydramnios Hypertelorism Cleft palate Cryptorchidism Low-set ears High palate Feeding difficulties Downslanted palpebral fissures Talipes equinovarus Edema Long philtrum Hypospadias Micropenis Apnea Rocker bottom foot Abnormality of the eye Arthrogryposis multiplex congenita Talipes Decreased fetal movement Frequent falls Large fontanelles Hydrops fetalis EMG: myopathic abnormalities Adducted thumb Pterygium Congenital contracture Akinesia Abnormality of the pancreatic islet cells



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