Cognitive impairment, and Limb-girdle muscular dystrophy

Diseases related with Cognitive impairment and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

Medium match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Medium match MUSCULAR DYSTROPHY, BECKER TYPE; BMD


The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002).As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001).

MUSCULAR DYSTROPHY, BECKER TYPE; BMD Is also known as muscular dystrophy, pseudohypertrophic progressive, becker type|becker muscular dystrophy

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, BECKER TYPE; BMD

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

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

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Medium match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Medium match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

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


Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Proximal muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Generalized hypotonia Respiratory insufficiency Flexion contracture Motor delay Shoulder girdle muscle weakness Rimmed vacuoles Intellectual disability Facial palsy Scapular winging Muscular hypotonia Hyperlordosis Global developmental delay Distal muscle weakness Fatty replacement of skeletal muscle Respiratory failure Dilatation Difficulty climbing stairs Scoliosis Spinal rigidity Calf muscle hypertrophy Waddling gait Seizures EMG: myopathic abnormalities Progressive muscle weakness Mildly elevated creatine phosphokinase Exercise intolerance Centrally nucleated skeletal muscle fibers Shoulder girdle muscle atrophy Hyporeflexia Dilated cardiomyopathy Arrhythmia

Rare Symptoms - Less than 30% cases


Distal amyotrophy Congenital muscular dystrophy Difficulty running Generalized amyotrophy Respiratory insufficiency due to muscle weakness Intellectual disability, severe Gowers sign Abnormality of metabolism/homeostasis Areflexia Congenital hip dislocation Neonatal hypotonia Hip dislocation Myopathic facies Gait disturbance Hypoventilation Ventriculomegaly Congestive heart failure Dementia Pelvic girdle muscle weakness Increased connective tissue Increased variability in muscle fiber diameter Limb muscle weakness Lumbar hyperlordosis Kyphoscoliosis Macroglossia Intellectual disability, mild Abnormal EKG Abnormal glycosylation Myoglobinuria Myalgia Hypoglycosylation of alpha-dystroglycan Behavioral abnormality Muscle cramps Lower limb muscle weakness Calf muscle pseudohypertrophy Cataract Talipes equinovarus Muscle fiber inclusion bodies Falls Elevated alkaline phosphatase Pain Cerebral edema Limited wrist extension Delayed speech and language development Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Increased endomysial connective tissue Highly elevated creatine phosphokinase Impaired mastication Abnormal brainstem MRI signal intensity Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormality of the temporomandibular joint Hip flexor weakness Intercostal muscle weakness Absent muscle fiber merosin Astrocytosis EMG: positive sharp waves Atelectasis EMG: myotonic discharges Focal-onset seizure Bradykinesia Pulmonary arterial hypertension Open mouth Pachygyria Heterotopia Decreased body weight Sensorimotor neuropathy Aspiration Absence seizures Lissencephaly Poor suck Abnormality of the foot musculature Focal impaired awareness seizure Hypokinesia Weak cry Protruding tongue Abnormality of the periventricular white matter Abnormality of visual evoked potentials Recurrent lower respiratory tract infections Myositis Abnormal cortical gyration Blindness Reduced ejection fraction Hypertension Nocturnal hypoventilation Tibialis muscle weakness Breech presentation Inability to walk Toe walking Abnormality of color vision Exertional dyspnea Thenar muscle atrophy Male pseudohermaphroditism Chromosome breakage Autophagic vacuoles Limb-girdle muscle weakness Congenital stationary night blindness Ragged-red muscle fibers Late-onset distal muscle weakness Gastrointestinal dysmotility Intestinal pseudo-obstruction Proximal muscle weakness in lower limbs Pallor Dysarthria Gastroparesis Absent muscle dystrophin expression Muscle fiber necrosis Proximal lower limb amyotrophy Red-green dyschromatopsia Hemiatrophy Myotonia Hypokalemia Vomiting EEG abnormality Diarrhea Cerebral atrophy Quadriceps muscle weakness Limited shoulder movement Weakness of long finger extensor muscles Pneumonia Recurrent respiratory infections Lower limb amyotrophy Absent Achilles reflex Hyperactivity Dyspnea Abnormality of the eye Hypothyroidism Respiratory tract infection Scarring Nyctalopia Attention deficit hyperactivity disorder Steppage gait Cough Foot dorsiflexor weakness Chest pain Sudden cardiac death Specific learning disability Ventricular arrhythmia Constipation Frontotemporal dementia Polymicrogyria Polyhydramnios Wolff-Parkinson-White syndrome Neck flexor weakness Moderately reduced ejection fraction Muscle fiber hypertrophy Reduced muscle fiber merosin Cleft palate Feeding difficulties Fever Intrauterine growth retardation Fatigue Pes planus Skeletal muscle hypertrophy Hypertrophic cardiomyopathy Arthrogryposis multiplex congenita Talipes Generalized muscle weakness Decreased fetal movement Ophthalmoparesis Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Motor deterioration Infantile muscular hypotonia Minicore myopathy Distal lower limb muscle weakness Abnormality of the abdominal musculature Cardiac arrest Hypocalcemia Rhabdomyolysis Recurrent myoglobinuria Acute rhabdomyolysis Red-brown urine Microcephaly Nystagmus Easy fatigability Neck muscle weakness Axial muscle weakness Reduced tendon reflexes EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Proximal muscle weakness in upper limbs Distal upper limb muscle weakness Dilatation of the ventricular cavity Fatigable weakness of bulbar muscles Growth delay Hydrocephalus Pectus excavatum Pes cavus Tachycardia Frequent falls Stooped posture Short stature Ophthalmoplegia Pelvic girdle amyotrophy Dyscalculia Motor neuron atrophy Calvarial hyperostosis Cranial nerve compression Pelvic girdle muscle atrophy Frontal cortical atrophy Elevated alkaline phosphatase of bone origin Scapuloperoneal weakness Semantic dementia Abnormality of long bone morphology Temporal cortical atrophy EMG: chronic denervation signs Ubiquitin-positive cerebral inclusion bodies Abnormal motor neuron morphology Weakness of muscles of respiration Dysphagia Respiratory distress Cerebellar hypoplasia Gastroesophageal reflux Intellectual disability, moderate Feeding difficulties in infancy Paralysis Abnormality of the cerebral white matter Abnormality of calvarial morphology Hip pain Dystonia Language impairment Cerebral cortical atrophy Hepatic steatosis Brain atrophy Neuronal loss in central nervous system Tetraparesis Fasciculations Osteolysis Mutism Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Back pain Spinal muscular atrophy Upper motor neuron dysfunction Sensory axonal neuropathy Alzheimer disease Amyotrophic lateral sclerosis Aphasia Dysphasia Pathologic fracture Abnormality of the vertebral column Urinary bladder sphincter dysfunction Progressive proximal muscle weakness EMG: neuropathic changes Motor axonal neuropathy Abnormality of the right hemidiaphragm



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